🧬 基因注释：ARG1
📝 官方信息
官方名称：arginase 1
功能摘要：Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011].
🎯 作为靶基因的剪接因子
- RBM10 置信度: 2.0
🏥 关联疾病
该基因暂无关联疾病记录