🧬 基因注释：OTC
📝 官方信息
官方名称：ornithine transcarbamylase
功能摘要：This nuclear gene encodes a mitochondrial matrix enzyme. The encoded protein is involved in the urea cycle which functions to detoxify ammonia into urea for excretion. Mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. [provided by RefSeq, May 2022].
🎯 作为靶基因的剪接因子
🏥 关联疾病
该基因暂无关联疾病记录