Gene: [01q22/PPOX] protoporphyrinogen oxidase (porphyria variegata); porphyria variegata (South African type; MIM:176200);


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)."

GEN

 The gene length: 8 kb; exons: 13 (Taketani-1995).

FUN

 The PPOX enzyme participates in the heme biosynthetic pathway, catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX."

TIS

 The enzyme is located in the inner membrane of mitochondria from various tissues, including liver, lymphocytes, and cultured fibroblasts."

PAT

 The variegate porphyria presents with excessive accumulation and excretion of protoporphyrin and autosomal dominant inheritance."

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."

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

KEY

 derm, neu, git

CLA

 coding, basic

LOC

 01 q22

MIM

 MIM: 600923

EZN

 ENZYME: 1.3.3.4