UROC1, Official Symbol UROC1provided by HGNC Official Full Name urocanate hydratase 1provided by HGNC Primary source HGNC:HGNC:26444 See related Ensembl:ENSG00000159650 MIM:613012; AllianceGenome:HGNC:26444 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as UROCD; HMFN0320 Summary This gene encodes an enzyme involved in the second step of histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. Deficiency of this enzyme results in urocanic aciduria, and is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2021] Expression Restricted expression toward liver (RPKM 20.9) See more Orthologs mouse all