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GeneCard: UROS   uroporphyrinogen III synthase (GC10M127467; Chromosome 10:127,467,138-127,501,786) The following 8 records in the GeneCard text contribute to matching your query: - OMIM: Uroporphyrinogen III synthase; | 606938 | Porphyria, congenital erythropoietic [MIM:263700] - SWISSPROT: DISEASE: Defects in UROS are the cause of congenital erythropoietic porphyria (CEP) [MIM:263700]; also known as Gunther disease. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. The manifestations of CEP are heterogeneous, ranging from nonimmune hydrops fetalis due to severe hemolytic anemia in utero to milder, later onset forms, which have only skin lesions due to cutaneous photosensitivity in adult life. The deficiency in UROS activity results in the non-enzymatic conversion of hydroxymethylbilane (HMB) into the uroporphyrinogen-I isomer                        DISEASE: Severe congenital erythropoietic porphyria is associated with non-immune hydrops fetalis [MIM:236750]. Hydrops fetalis is a generalized edema of the fetus with fluid accumulation in the body cavities - UNIGENE: Hs.501376 | Uroporphyrinogen III synthase (congenital erythropoietic porphyria) | UROS | AK092076 . . . - LITERATURE: Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling. . . . - GENATLAS: biochem: uroporphyrinogen III synthase,cytosolic,catalyzing the fourth step of porphyrin biosynthesis | disease: porphyria congenita erythropoietic,Gunther disease - ENTREZGENE: chr=10 | contig= | cytoLoc=10q25.2-q26.3 | dbXrefs=HGNC:12592,MIM:606938,Ensembl:ENSG00000188690,HPRD:06087 | egHugo= | egId=7390 | end=127501757 | geneName=uroporphyrinogen III synthase (congenital erythropoietic porphyria) | genomicNucAcc=AF230664.1 AL360176.22 CH471066.2 AC_000053.1 AC_000142.1 NC_000010.9 NT_035040.4 NW_001838010.1 NW_924884.1 | go=GO:0016829 GO:0033014 GO:0006780 GO:0004852 GO:0006783 | protAcc=AAG36794.1 CAI12087.1 CAI12088.1 CAI12089.1 CAI12090.1 EAW49221.1 EAW49222.1 EAW49223.1 EAW49224.1 EAW49225.1 EAW49226.1 EAW49227.1 EAW49228.1 EAW49229.1 P10746.1 Q5T3L7 Q5T3L8 Q9BT54 AAG36795.1 BAG37410.1 AAH02573.1 AAH04338.1 ABM82862.1 ABM86049.1 AAA60273.1 NP_000366.1 | proteinAliases=OTTHUMP00000020709|OTTHUMP00000020710|uroporphyrinogen III synthase | refseq=NM_000375.2(REVIEWED) | rnaNucAcc=AF230665.1 AK314896.1 BC002573.2 BC004338.1 CR591021.1 CR600887.1 CR601670.1 CR607191.1 CR614085.1 DQ891936.2 DQ895123.2 DR156879.1 J03824.1 NM_000375.2 | start=127467142 | status=O | summary=The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). | symbol=UROS | synonyms=- | type=protein-coding - HomoloGene:Organism=Gga|Symbol=UROS|Location=|Description=uroporphyrinogen III synthase (congenital erythropoietic porphyria)|Nuc_Similarity=70.58|Prot_Similarity=68.94|EntrezGene=426223|GenBank=XM_423886.2|Protein=XP_423886.2|HomologeneId=37296|FormatType=new . . . - bioalma: ... PORPHYRIA ... GeneCard: ALAD   aminolevulinate, delta-, dehydratase (GC09M115188; Chromosome 9:115,188,413-115,203,391) The following 7 records in the GeneCard text contribute to matching your query: - ALIASES: MGC5057 (EG)| aminolevulinate dehydratase (EG)| delta-aminolevulinic acid dehydratase (EG)| porphobilinogen synthase (EG)| porphyria, acute, hepatic (EG)| PBGS (HGNC)| PBGS (EG)| ALADH (HGNC)| ALADH (SP)| ALADH (EG)| Porphobilinogen synthase (SP) - OMIM: Aminolevulinate, delta-, dehydratase; | 125270 | Porphyria, acute hepatic | {Lead poisoning, susceptibility to} - SWISSPROT: DISEASE: Defects in ALAD are the cause of acute hepatic porphyria (AHP) [MIM:125270]. AHP is a form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme. AHP is characterized by attacks of gastrointestinal disturbances, abdominal colic, paralysis, and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors - LITERATURE: Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria. . . . - GENATLAS: biochem: delta-aminolevulinate dehydratase,cytosolic enzyme catalyzing porphibilinogen formation,second step of porphyrin biosynthesis | disease: porphyria,acute,hepatic - ENTREZGENE: chr=9 | contig= | cytoLoc=9q33.1 | dbXrefs=HGNC:395,MIM:125270,Ensembl:ENSG00000148218,HPRD:00504 | egHugo= | egId=210 | end=115203391 | geneName=aminolevulinate, delta-, dehydratase | genomicNucAcc=AY319481.1 X64467.1 AL137066.15 CH471090.1 AC_000052.1 AC_000141.1 NC_000009.10 NT_008470.18 NW_001839236.2 NW_924573.1 | go=GO:0008152 GO:0006783 GO:0006779 GO:0016829 GO:0046872 GO:0005829 GO:0008270 GO:0004655 | protAcc=AAP72012.1 CAA45796.1 CAH70099.2 EAW87379.1 EAW87380.1 P13716.1 Q6ZMU0 BAD18635.1 BAF83179.1 BAG35449.1 AAH00977.3 AAA51687.1 AAC60581.1 AAC60582.1 NP_000022.3 NP_001003945.1 | proteinAliases=aminolevulinate dehydratase|delta-aminolevulinic acid dehydratase|porphobilinogen synthase|porphyria, acute, hepatic | refseq=NM_000031.5(REVIEWED) NM_001003945.1(REVIEWED) | rnaNucAcc=AA593706.1 AK131490.1 AK290490.1 AK312552.1 AU279870.1 BC000977.3 BU625796.1 BX494400.1 DA412142.1 DA805310.1 M13928.1 S99468.1 S99471.1 NM_000031.5 NM_001003945.1 | start=115188413 | status=O | summary=The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. | symbol=ALAD | synonyms=ALADH MGC5057 PBGS | type=protein-coding - bioalma: ... Porphyria ... GeneCard: HMBS   hydroxymethylbilane synthase (GC11P118460; Chromosome 11:118,460,797-118,469,469) The following 7 records in the GeneCard text contribute to matching your query: - OMIM: Hydroxymethylbilane synthase; PBGD, UPS | 609806 | Porphyria, acute intermittent [MIM:176000] | Porphyria, acute intermittent, nonerythroid variant [MIM:176000] - SWISSPROT: DISEASE: Defects in HMBS are the cause of acute intermittent porphyria (AIP) [MIM:176000]. AIP is a form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by acute attacks of neurological dysfunctions with abdominal pain, hypertension, tachycardia, and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors - LITERATURE: Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria. . . . - GENATLAS: biochem: hydroxymethylbilane synthase,cytosolic,catalyzing the polymerization of four PGB,third step of porphyrin biosynthesis | disease: porphyria,acute,intermittent (AIP),including an erythroid form and a non-erythroid variant - ENTREZGENE: chr=11 | contig= | cytoLoc=11q23.3 | dbXrefs=HGNC:4982,MIM:609806,Ensembl:ENSG00000149397,HPRD:01440 | egHugo= | egId=3145 | end=118469469 | geneName=hydroxymethylbilane synthase | genomicNucAcc=AP003391.1 AP003392.2 M18800.1 M18799.1 M95623.1 S60381.1 D10608.1 AB162702.1 X68018.1 CH471065.1 NG_008093.1 AC_000054.1 AC_000143.1 NC_000011.8 NT_033899.7 NW_001838042.2 NW_925173.1 | go=GO:0016740 GO:0004418 GO:0005737 GO:0006783 | protAcc=AAA60028.1 AAA60029.1 AAA60030.1 AAC60602.1 BAA01463.1 BAD36778.1 CAA48156.1 EAW67447.1 EAW67448.1 EAW67449.1 EAW67450.1 P08397.2 Q0G847 Q68Y91 Q6LER4 BAF82964.1 AAH00520.1 AAH08149.1 AAH19323.1 BAA05785.1 CAA27801.1 CAA28499.1 NP_000181.2 NP_001019553.1 | proteinAliases=porphobilinogen deaminase|pre-uroporphyrinogen synthase|uroporphyrinogen I synthase|uroporphyrinogen I synthetase | refseq=NM_000190.3(REVIEWED) NM_001024382.1(REVIEWED) | rnaNucAcc=AK000628.1 AK131072.1 AK290275.1 AK309544.1 AK310343.1 AW139390.1 BC000520.2 BC008149.1 BC019323.1 BF210364.1 BQ020524.1 BX647328.1 CB128006.1 CR590157.1 CR595054.1 CR596302.1 CR598526.1 CR603362.1 CR606553.1 CR606864.1 CR611265.1 CR611708.1 CR612613.1 CR613896.1 CR614466.1 CR620096.1 CR621119.1 D28419.1 X04217.1 X04808.1 NM_000190.3 NM_001024382.1 | start=118460797 | status=O | summary=This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. | symbol=HMBS | synonyms=PBG-D PBGD UPS | type=protein-coding - GENETESTS: aip, Acute Intermittent Porphyria - bioalma: ... Porphyria ... GeneCard: PPOX   protoporphyrinogen oxidase (GC01P159402; Chromosome 1:159,402,818-159,407,634) The following 6 records in the GeneCard text contribute to matching your query: - ALIASES: MGC8485 (EG)| OTTHUMP00000032237 (EG)| OTTHUMP00000032238 (EG)| V290M (EG)| VP (EG)| PPO (HGNC)| PPO (EG)| variegate porphyria (HGNC)| variegate porphyria (EG)| Hcrt (SP)| Hypocretin (SP)| OX (SP)| PPORX (SP) - OMIM: Protoporphyrinogen oxidase; | 600923 | Porphyria variegata [MIM:176200] - LITERATURE: Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria. . . . - ENTREZGENE: chr=1 | contig= | cytoLoc=1q22 | dbXrefs=HGNC:9280,MIM:600923,Ensembl:ENSG00000143224,HPRD:02953 | egHugo= | egId=5498 | end=159407634 | geneName=protoporphyrinogen oxidase | genomicNucAcc=AF215863.1 AF215864.1 AY032688.1 AY032687.1 AF321821.1 AL590714.27 CH471121.2 AC_000044.1 AC_000133.1 NC_000001.9 NT_004487.18 NW_001838531.2 NW_925683.1 | go=GO:0016020 GO:0009055 GO:0050660 GO:0005758 GO:0055114 GO:0006783 GO:0004729 GO:0031304 GO:0005739 GO:0016491 | protAcc=AAG43994.1 AAG43995.1 AAK50375.1 AAK50376.1 AAK69607.1 CAH72144.1 EAW52635.1 EAW52636.1 EAW52637.1 EAW52638.1 EAW52639.1 EAW52640.1 EAW52641.1 P50336.1 Q5VTW8 Q96RP0 Q96SE3 Q96TC9 Q9H2U7 Q9H2U8 BAG52942.1 AAH02357.1 BAA07538.1 ABM83141.1 ABM86337.1 AAA67690.1 NP_000300.1 NP_001116236.1 | proteinAliases=OTTHUMP00000032237|OTTHUMP00000032238|variegate porphyria | refseq=NM_000309.3(REVIEWED) NM_001122764.1(REVIEWED) | rnaNucAcc=AI357309.1 AK094855.1 AU076582.1 BC002357.2 BX384814.2 CR594122.1 CR595368.1 CR604029.1 CR606372.1 CR609680.1 CR611657.1 CR613738.1 CR615446.1 CR618454.1 CR623872.1 CR623976.1 CR625269.1 D38537.1 DC329287.1 DQ892215.2 DQ895411.2 U26446.1 NM_000309.3 | start=159402818 | status=O | summary=This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq] | symbol=PPOX | synonyms=MGC8485 PPO V290M VP | type=protein-coding - HGNC: accs=BC002357 | aliases=PPO | dateApproved=1988-08-31 | dateModified=2008-02-05 | dateNameChanged= | description=protoporphyrinogen oxidase | egCuratedId=5498 | egMappedId=5498 | enzymeIds=1.3.3.4 | geneFamName= | hgnc=9280 | loc=1q22 | mgdId=MGI:104968 | omimId=600923 | prevNames="variegate porphyria" | prevSymbols=VP | pubmedIds=8575762, 10457135 | refseqId=NM_000309 | refseqMappedId=NM_000309 | status=Approved | symbol=PPOX | uniprotId=P50336 - bioalma: ... Porphyria ... GeneCard: UROD   uroporphyrinogen decarboxylase (GC01P045205; Chromosome 1:45,250,417-45,253,928) The following 6 records in the GeneCard text contribute to matching your query: - OMIM: Uroporphyrinogen decarboxylase; | 176100 | Porphyria cutanea tarda | Porphyria, hepatoerythropoietic - SWISSPROT: DISEASE: Defects in UROD are the cause of familial porphyria cutanea tarda (FPCT) [MIM:176100]; also known as porphyria cutanea tarda type II. FPCT is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. Besides the familial form of PCT, a relatively common idiosyncratic form is known in which only the liver enzyme is reduced. This form is referred to as porphyria cutanea tarda "sporadic " type or type I [MIM:176090]. PCT type I occurs sporadically as an unusual accompaniment of common hepatic disorders such as alcohol-associated liver disease                        DISEASE: Defects in UROD are the cause of hepatoerythropoietic porphyria (HEP) [MIM:176100]. HEP is a rare autosomal recessive disorder. It is the severe form of cutaneous porphyria, and presents in infancy. The level of UROD is very low in erythrocytes and cultured skin fibroblasts, suggesting that HEP is the homozygous state for porphyria cutanea tarda - LITERATURE: Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene. . . . - GENATLAS: biochem: uroporphyrinogen decarboxylase,cytosolic,catalyzing coproporphyrinogen IX formation,fifth step of porphyrin synthesis | disease: porphyria cutanea tarda,hepatoerythropoietic,autosomal dominant photosensitive dermatitis,mechanical fragility of the light-exposed skin,hyperpigmentation,hypertrichosis,provoked by various ecogenic factors and,likely by heterozygosity to some HFE mutations - ENTREZGENE: chr=1 | contig= | cytoLoc=1p34 | dbXrefs=HGNC:12591,MIM:176100,Ensembl:ENSG00000126088,HPRD:01441 | egHugo= | egId=7389 | end=45253928 | geneName=uroporphyrinogen decarboxylase | genomicNucAcc=M60891.1 AF047383.1 U30787.1 AF103016.1 AF103017.1 AY292986.1 X89267.1 AL359473.22 CH471059.2 NG_007122.2 AC_000044.1 AC_000133.1 NC_000001.9 NT_032977.8 NW_001838578.2 NW_921351.1 | go=GO:0016829 GO:0004853 GO:0005737 GO:0006783 GO:0006779 | protAcc=AAB59456.1 AAC03563.1 AAC50482.1 AAD04167.1 AAD04168.1 AAP44118.1 CAA61540.1 CAI16439.1 CAI16440.1 CAI16441.1 EAX07007.1 EAX07008.1 P06132.2 Q53YB8 Q53ZP6 Q5T450 Q71UD4 Q71UD5 AAD04571.1 AAD04572.1 AAD04573.1 AAD04574.1 AAD04575.1 AAD04576.1 AAD04577.1 AAD04578.1 AAD04579.1 AAD04580.1 AAD04581.1 AAD04582.1 AAD04583.1 AAD04584.1 AAD04585.1 AAD04586.1 AAD04587.1 AAD04588.1 AAD04589.1 AAD04590.1 BAF84566.1 BAF98769.1 AAH01778.1 AAP35383.1 CAG33257.1 CAG46854.1 ABM81614.1 ABM84796.1 AAA61258.1 NP_000365.3 | proteinAliases=OTTHUMP00000010502|fifth enzyme of heme biosynthetic pathway|fifth enzyme of the heme biosynthetic pathway|uroporphyrinogen III decarboxylase | refseq=NM_000374.3(REVIEWED) | rnaNucAcc=AF104421.1 AF104422.1 AF104423.1 AF104424.1 AF104425.1 AF104426.1 AF104427.1 AF104428.1 AF104429.1 AF104430.1 AF104431.1 AF104432.1 AF104433.1 AF104434.1 AF104435.1 AF104436.1 AF104437.1 AF104438.1 AF104439.1 AF104440.1 AK225053.1 AK291877.1 AK308996.1 AK309446.1 AK309724.1 AK310208.1 AK315878.1 BC001778.1 BM554255.1 BT006737.1 BX647308.1 CR456976.1 CR542057.1 CR595045.1 CR595230.1 CR599631.1 CR600525.1 CR612288.1 CR616226.1 CR619530.1 DQ890688.2 DQ893870.2 M14016.1 NM_000374.3 | start=45250417 | status=O | summary=This gene encodes the fifth enzyme of the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria. [provided by RefSeq] | symbol=UROD | synonyms=PCT | type=protein-coding - bioalma: ... Porphyria ... GeneCard: PORC   porphyria, acute; Chester type (GC11U990109; Chromosome 11) The following 5 records in the GeneCard text contribute to matching your query: - GENE: PORC | porphyria, acute; Chester type - OMIM: Porphyria, acute, Chester type; | 176010 | Porphyria, Chester type - LITERATURE: Chester porphyria: biochemical studies of a new form of acute porphyria. . . . - ENTREZGENE: chr=11 | contig= | cytoLoc=11q23.1 | dbXrefs=HGNC:9209,MIM:176010 | egHugo= | egId=5448 | end=0 | geneName=porphyria, acute; Chester type | genomicNucAcc= | protAcc= | proteinAliases=- | refseq= | rnaNucAcc= | start=0 | status=O | symbol=PORC | synonyms=- | type=unknown - HGNC: accs= | aliases= | dateApproved=1991-12-12 | dateModified=2003-07-30 | dateNameChanged= | description=porphyria, acute; Chester type | egCuratedId=5448 | egMappedId=5448 | enzymeIds= | geneFamName= | hgnc=9209 | loc=11q23.1 | mgdId= | omimId=176010 | prevNames= | prevSymbols= | pubmedIds=2864531, 8340112 | refseqId= | refseqMappedId= | status=Approved | symbol=PORC | uniprotId= GeneCard: HFE   hemochromatosis (GC06P026195; Chromosome 6:26,195,427-26,205,038) The following 4 records in the GeneCard text contribute to matching your query: - OMIM: Hemochromatosis gene; HLA-H, HFE1 | 235200 | Hemochromatosis | Porphyria variegata [MIM:176200] - SWISSPROT: DISEASE: Defects in HFE are a cause of porphyria variegata (PV) [MIM:176200]. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. PV is the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease - LITERATURE: Association of porphyria cutanea tarda with hereditary hemochromatosis. . . . - bioalma: ... Porphyria ... GeneCard: CPOX   coproporphyrinogen oxidase (GC03M099780; Chromosome 3:99,780,980-99,795,131) The following 3 records in the GeneCard text contribute to matching your query: - SWISSPROT: DISEASE: Defects in CPOX are the cause of hereditary coproporphyria (HCP) [MIM:121300]. HCP is an acute hepatic porphyria and an autosomal dominant disease characterized by neuropsychiatric disturbances and skin photosensitivity. Biochemically, there is an overexcretion of coproporphyrin III in the urine and in the feces. HCP is clinically characterized by attacks of abdominal pain, neurological disturbances, and psychiatric symptoms. The symptoms are generally manifested with rapid onset, and can be precipitated by drugs, alcohol, caloric deprivation, infection, endocrine factors or stress. A severe variant form is harderoporphyria, which is characterized by earlier onset attacks, massive excretion of harderoporphyrin in the feces, and a marked decrease of coproporphyrinogen IX oxidase activity - LITERATURE: Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient. . . . - bioalma: ... Porphyria ... GeneCard: FECH   ferrochelatase (protoporphyria) (GC18M053367; Chromosome 18:53,366,535-53,404,988) The following 3 records in the GeneCard text contribute to matching your query: - SWISSPROT: DISEASE: Defects in FECH are the cause of erythropoietic protoporphyria (EPP) [MIM:177000]. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. EPP is a form of porphyria marked by excessive protoporphyrin in erythrocytes, plasma, liver and feces, and by widely varying photosensitive skin changes ranging from a burning or pruritic sensation to erythema, edema and wheals - LITERATURE: Human gene mutations. Gene symbol: FECH. Disease: Porphyria, erythropoietic. . . . - bioalma: ... Porphyria ... GeneCard: ALAS1   aminolevulinate, delta-, synthase 1 (GC03P052207; Chromosome 3:52,207,156-52,223,383) The following 2 records in the GeneCard text contribute to matching your query: - LITERATURE: (Far) Outside the box: genomic approach to acute porphyria. . . . - bioalma: ... Porphyria ... GeneCard: CYP1A2   cytochrome P450, family 1, subfamily A, polypeptide 2 (GC15P072828; Chromosome 15:72,828,237-72,835,994) The following 2 records in the GeneCard text contribute to matching your query: - LITERATURE: Cytochrome p450A1 polymorphisms in a Caucasian population with porphyria cutanea tarda. . . . - bioalma: ... Porphyria ... GeneCard: GATA1   GATA binding protein 1 (globin transcription factor 1) (GC0XP048529; Chromosome X:48,529,906-48,537,662) The following 2 records in the GeneCard text contribute to matching your query: - LITERATURE: Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. . . . - bioalma: ... PORPHYRIA ... GeneCard: TFRC   transferrin receptor (p90, CD71) (GC03M197264; Chromosome 3:197,260,553-197,293,358) The following 2 records in the GeneCard text contribute to matching your query: - LITERATURE: Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT). . . . - bioalma: ... Porphyria ... GeneCard: AHR   aryl hydrocarbon receptor (GC07P017304; Chromosome 7:17,304,832-17,352,299) The following 1 record in the GeneCard text contributes to matching your query: - bioalma: ... Porphyria ... GeneCard: CPO   carboxypeptidase O (GC02P207512; Chromosome 2:207,512,523-207,542,443) The following 1 record in the GeneCard text contributes to matching your query: - GENATLAS: biochem: coproporphyrinogen oxidase,71-74kDa,catalyzing protoporphyrinogen formation,mitochondrial,catalyzing the sixth step of porphyrin biosynthesis | disease: coproporphyria,hereditary acute hepatic porphyria characterized by cutaneous photosensibility and neurological disturbances with an overproduction of coproporphyrin,including harderoporphyria GeneCard: CPX   cleft palate and/or ankyloglossia (GC00U922106; --) The following 1 record in the GeneCard text contributes to matching your query: - SWISSPROT: DISEASE: Defects in CPOX are the cause of hereditary coproporphyria (HCP) [MIM:121300]. HCP is an acute hepatic porphyria and an autosomal dominant disease characterized by neuropsychiatric disturbances and skin photosensitivity. Biochemically, there is an overexcretion of coproporphyrin III in the urine and in the feces. HCP is clinically characterized by attacks of abdominal pain, neurological disturbances, and psychiatric symptoms. The symptoms are generally manifested with rapid onset, and can be precipitated by drugs, alcohol, caloric deprivation, infection, endocrine factors or stress. A severe variant form is harderoporphyria, which is characterized by earlier onset attacks, massive excretion of harderoporphyrin in the feces, and a marked decrease of coproporphyrinogen IX oxidase activity GeneCard: DPAGT1   dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) (GC11M118472; Chromosome 11:118,472,423-118,477,995) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: A large deletion on chromosome 11 in acute intermittent porphyria. . . . GeneCard: GLUL   glutamate-ammonia ligase (glutamine synthetase) (GC01M180617; Chromosome 1:180,617,462-180,627,964) The following 1 record in the GeneCard text contributes to matching your query: - bioalma: ... Porphyria ... GeneCard: HLA-A   major histocompatibility complex, class I, A (GC06P030020; Chromosome 6:30,017,016-30,021,640) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Human leukocyte antigen haplotypes and HFE mutations in Spanish hereditary hemochromatosis and sporadic porphyria cutanea tarda. . . . GeneCard: HLA-B   major histocompatibility complex, class I, B (GC06M031345; Chromosome 6:31,344,505-31,432,935) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Human leukocyte antigen haplotypes and HFE mutations in Spanish hereditary hemochromatosis and sporadic porphyria cutanea tarda. . . . GeneCard: HLA-DRB1   major histocompatibility complex, class II, DR beta 1 (GC06M032656; Chromosome 6:32,654,513-32,665,591) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Porphyria cutanea tarda and HLA-linked hemochromatosis. Evidence against a systematic association. . . . GeneCard: HLA-H   major histocompatibility complex, class I, H (pseudogene) (GC06P029912; Chromosome 6:29,963,368-29,966,825) The following 1 record in the GeneCard text contributes to matching your query: - OMIM: Hemochromatosis gene; HFE, HFE1 | 235200 | Hemochromatosis | Porphyria variegata [MIM:176200] GeneCard: HMGCR   3-hydroxy-3-methylglutaryl-Coenzyme A reductase (GC05P074668; Chromosome 5:74,668,855-74,693,681) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: [Porphyria cutanea tarda induced by HMG CoA reductase inhibitors: simvastatin, pravastatin] . . . GeneCard: HMOX1   heme oxygenase (decycling) 1 (GC22P034101; Chromosome 22:34,107,087-34,120,194) The following 1 record in the GeneCard text contributes to matching your query: - bioalma: ... Porphyria ... GeneCard: HPX   hemopexin (GC11M006408; Chromosome 11:6,408,858-6,418,830) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Correlation between levels of free and protein-bound plasma porphyrin and urinary porphyrins in porphyria cutanea tarda. . . . GeneCard: MLN   motilin (GC06M033870; Chromosome 6:33,870,427-33,879,771) The following 1 record in the GeneCard text contributes to matching your query: - bioalma: ... Porphyria ... GeneCard: NGB   neuroglobin (GC14M076801; Chromosome 14:76,801,581-76,807,408) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: From King George to neuroglobin: the psychiatric aspects of acute intermittent porphyria. . . . GeneCard: NTS   neurotensin (GC12P084770; Chromosome 12:84,792,204-84,800,898) The following 1 record in the GeneCard text contributes to matching your query: - bioalma: ... Porphyria ... GeneCard: PC   pyruvate carboxylase (GC11M066372; Chromosome 11:66,372,573-66,482,423) The following 1 record in the GeneCard text contributes to matching your query: - bioalma: ... Porphyria ... GeneCard: PPIG   peptidylprolyl isomerase G (cyclophilin G) (GC02P170150; Chromosome 2:170,149,096-170,202,500) The following 1 record in the GeneCard text contributes to matching your query: - bioalma: ... Porphyria ... GeneCard: SEPSECS   Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (GC04M024730; Chromosome 4:24,730,734-24,771,162) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Autoantibodies in sporadic porphyria cutanea tarda. . . . GeneCard: SOD1   superoxide dismutase 1, soluble (GC21P031953; Chromosome 21:31,953,806-31,963,115) The following 1 record in the GeneCard text contributes to matching your query: - bioalma: ... Porphyria ... GeneCard: TDO2   tryptophan 2,3-dioxygenase (GC04P157044; Chromosome 4:157,044,297-157,061,000) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Intravenous heme-albumin in acute intermittent porphyria: evidence for repletion of hepatic hemoproteins and regulatory heme pools. . . . GeneCard: TF   transferrin (GC03P134947; Chromosome 3:134,901,901-134,980,540) The following 1 record in the GeneCard text contributes to matching your query: - bioalma: ... Porphyria ... GeneCard: TFR2   transferrin receptor 2 (GC07M100055; Chromosome 7:100,055,975-100,077,109) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic. . . . GeneCard: VPS11   vacuolar protein sorting 11 homolog (S. cerevisiae) (GC11P118443; Chromosome 11:118,443,703-118,457,898) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: A large deletion on chromosome 11 in acute intermittent porphyria. . . .

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