Gene: [01q22/PPOX] protoporphyrinogen oxidase (porphyria variegata); porphyria variegata (South African type; MIM:176200);
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COM |
Initially the VP(PPOX) gene had been considered to locate in 14q (Bissbort-1988). Later many authors obtained the strong evidence that the PPOX gene is mapped to 1q32 (Roberts-1995; Taketani-1995)." |
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GEN |
The gene length: 8 kb; exons: 13 (Taketani-1995). |
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FUN |
The PPOX enzyme participates in the heme biosynthetic pathway, catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX." |
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TIS |
The enzyme is located in the inner membrane of mitochondria from various tissues, including liver, lymphocytes, and cultured fibroblasts." |
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PAT |
The variegate porphyria presents with excessive accumulation and excretion of protoporphyrin and autosomal dominant inheritance." |
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HET |
Several loci accounting for different types of porphyria are mapped in the human genome. On the classification of hereditary porphyrias, see GEM:01p34/UROD." |
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REF |
MAP "Bissbort S &: Hum Genet, 79, 289-290, 1988 PAT,PHE,FOG "Brenner DA, Bloomer JR: New Engl J Med, 302, 765-769, 1980 PAT,MUT "Deybach J-C &: Hum Mol Genet, 5, 407-410, 1996 PAT,PHE,FOG "Hamnstrom B &: Brit Med J, 2, 449-453, 1968 PAT,PHE,FOG "Husquinet H &: J Genet Hum, 26, 367-383, 1978 PAT,PHE,FOG "Korda V &: Photodermatology, 2, 257-259, 1985 PAT,MUT "Lam H &: Hum Genet, 99, 126-129, 1997 PAT,PHE,FOG "MacAlpine I &: Brit Med J, 1, 7-17, 1968 PAT,MUT "Meissner PN &: Nature Genet, 13, 95-97, 1996 PAT,PHE,FOG "Murphy GM &: J Roy Soc Med, 79, 361-363, 1986 PAT,PHE,FOG "Mustajoki P &: Clin Genet, 32, 300-305, 1987 PAT,PHE,FOG "Mustajoki P: Quart J Med, 49, 191-203, 1980 PAT,PHE,FOG "Mustajoki P: Ann Int Med, 89, 238-244, 1978 LOC,LIN "Roberts AG &: Hum Mol Genet, 4, 2387-2390, 1995 GEN,SEQ,LOC,LIN "Taketani S &: Genomics, 29, 698-703, 1995 PAT,MUT "Warnich L &: Hum Mol Genet, 5, 981-984, 1996 |
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KEY |
derm, neu, git |
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CLA |
coding, basic |
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LOC |
01 q22 |
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MIM |
MIM: 600923 |
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EZN |
ENZYME: 1.3.3.4 |
