Entrez gene ID | | 7389 |
Official gene symbol | | UROD |
Full name | | uroporphyrinogen decarboxylase |
Aliases | | ,PCT, |
Gene summary | | This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria. |
Location | | Chromosome: 1 Locus: 1p34 |
Gene position | | 45477805 - 45481341 Map Viewer |
Gene orientation | | plus |
Gene size | | 3537 bp |
Gene sequence |
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OMIM ID | | 613521 |