Full name: urocanate hydratase 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: HMFN0320; UROCD

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)

Gene size: 36608bp

Exon count: 21