🧬 基因注释：UROC1
📝 官方信息
官方名称：urocanate hydratase 1
功能摘要：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].
🏥 关联疾病
该基因暂无关联疾病记录