Gene Symbol | UROS |
Entrez Gene ID | 7390 |
Full Name | uroporphyrinogen III synthase |
Synonyms | UROIIIS |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Porphyria, congenital erythropoietic, 263700 (3) |