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UROC1 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 mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.
Gene Name: | urocanate hydratase 1 |
Synonyms: | UROC1, HMFN0320, Urocanase domain containing 1, Urocanase 1, Urocanate hydratase, Urocanate hydratase 1, Urocanase |
Target Sequences: | NM_001165974 NP_001159446.1 Q96N76 |
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