| Entrez gene ID | | 5498 |
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| Official gene symbol | | PPOX |
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| Full name | | protoporphyrinogen oxidase |
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| Aliases | | ,MGC8485,PPO,V290M,VP, |
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| Gene 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] |
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| Location | | Chromosome: 1 Locus: 1q22 |
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| Gene position | | 161136181 - 161141010 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 4830 bp |
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| Gene sequence |
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| OMIM ID | | 600923 |
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