Gene Symbol | UROC1 |
Entrez Gene ID | 131669 |
Full Name | urocanate hydratase 1 |
Synonyms | HMFN0320,UROCD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes an enzyme involved in histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. The gene product is known to protect the skin from ultra violet rays and is contained in human sweat. Deficiency of this gene product in the liver is an apparent cause of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]. |
Disorder MIM: | |
Disorder Html: | ?Urocanase deficiency, 276880 (3) |