Gene: [01p34/UROD] uroporphyrinogen decarboxylase (porphyria, type 2); porphyria cutanea tarda (type II; hepatocutaneous type);
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MOP |
Two UROD forms, which differ in electrophoretic mobility, have been found in human red blood cells (Mukerji-1987). The slow component has MM 54 kDa, and the fast one has MM 35 kDa. It is not clear yet which of them represents a polypeptide, 367 amino acids in length, deduced from cDNA (Romeo-1986)." |
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GEN |
Gene length: 3.5 kb. Exons: 10. Mature transcript: 1.3 kb. Probe pUD3 contains a 1.3-kb fragment of (presumably) the entire UROD cDNA, which have been cloned in pBR322 at PstI site." |
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FUN |
[1] Systematic name: uroporphyrinogen-III carboxy-lyase.
[2] Reaction catalyzed: uroporphyrinogen-III = coproporphyrinogen + 4 CO(2). [3] The enzyme also affects a number of porphyrinogens." |
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CAG |
Seven types of hereditary porphyria are known: - PORPHYRIA CUTANEA TARDA (MIM:176100; PCT2#) - uroporphyrinogen decarboxylase deficiency (this locus); - COPROPORPHYRIA (MIM:121300) - coproporhpyrinogen oxidase deficiency (GEM:09^/CPO); - ACUTE HEPATIC PORPHYRIA (MIM:125270) - delta-aminolevulinate dehydratase deficiency (GEM:09q34/ALAD); - ACUTE INTERMITTENT PORPHYRIA (MIM:176000; UPS#) - porphobilinogen deaminase deficiency (GEM:11q233/HMBS); - PORPHYRIA VARIEGATA (MIM:176200; VP) - protoporphyrinogen oxidase deficiency (GEM:01q22/PPOX); - CONGENITAL ERYTHROPOIETIC PORPHYRIA (Gunther disease; MIM:263700; CEP#) - uroporphyrinogen-III synthase deficiency (GEM:10q2/UROS); - ERYTHROPOIETIC PROTOPORPHYRIA (MIM:177000; EPP#) - ferrochelatase deficiency (GEM:18q21/FECH). The MIM catalogue indicates two other types of porphyria: Chester type (MIM:176010) and so called sporadic type of late cutaneous porphyria (MIM:176090; PCT1#)." |
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REF |
MUT,POL "de Verneuil H &: Hum Genet, 89, 548-552, 1992 LOC "de Verneuil H &: Hum Genet, 66, 202-205, 1984 LOC "Dubart A &: Hum Genet, 73, N3, 277-279, 1986 MUT,POL "Garey JR &: J Clin Invest, 86, 1416-1422, 1990 PRO,SEQ,EXP "Garey JR &: Blood, 73, 892-895, 1989 MUT,POL "Hansen JL &: Hum Hered, 38, 283-286, 1988 LOC "Mattei MG &: CCG, 40, (HGM8), 692, 1985 IDN,FUN,PEP "Mauzerall D, Granick S: JBC, 232, 1141-?, 1958 LOC "McLellan T &: CCG, 39, 224-227, 1985 MOP "Mukerji, Pimstone: BBRC, 146, N3, 1196-1203, 1987 MUT,POL "Romana M &: Eur J Clin Invest, 21, 225-229, 1991 PRO,GEN,EXP "Romana M &: NAR, 15, N18, 7343-7356, 1987 PRO,SEQ "Romeo P-H &: JBC, 261, N21, 9825-9831, 1986 FUN,PEP "Tomio JM &: BBA, 198, N2, 353-363, 1970 |
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KEY |
derm, mtbd, pigm |
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CLA |
coding, basic |
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LOC |
01 p34 |
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MIM |
MIM: 176100 |
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EZN |
ENZYME: 4.1.1.37 |
