Gene Symbol | UROD |
Entrez Gene ID | 7389 |
Full Name | uroporphyrinogen decarboxylase |
Synonyms | PCT,UPD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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.[provided by RefSeq, Aug 2010]. |
Disorder MIM: | |
Disorder Html: | Porphyria cutanea tarda, 176100 (3); Porphyria, hepatoerythropoietic, 176100 (3) |