QuickView for PPOX;jsessionid=17A10C3D9CF63FBAF317BC9A0C0DD6E2 (gene)

Gene Symbol:

PPOX Homo sapiens

Full name:

protoporphyrinogen oxidase

Synonyms:

PPO, V290M, VP, protoporphyrinogen oxidase

Genomic Location:

Chr 1: 159402818-159407634

Description:

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 mito...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

E12_Q6 ,  AACWWCAANK_UNKNOWN ,  RTAAACA_FREAC2_01 ,  PAX4_04 ,  TTANTCA_UNKNOWN ,  MAZ_Q6 ,  POU3F2_01 ,  GATA_C ,  YTATTTTNR_MEF2_02 ,  EVI1_04 ,  GATAAGR_GATA_C ,  RFX1_01 ,  GGGAGGRR_MAZ_Q6 ,  CAGGTG_E12_Q6 ,  LMO2COM_02 ,  POU1F1_Q6 ,  GATA2_01 ,  AP2REP_01

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Cytogenetic Map:

1q23.3

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