检测编号：NS0460118

基因 ARG1 与疾病

ARG1基因编码精氨酸酶，精氨酸酶是鸟氨酸循环中最后一个酶，它将精氨酸上的N转化为尿素，该基因突变导致精氨酸不能正常代谢，不能生成尿素，过量的氮以氨的形式积累于血液中，对机体造成损害。

已发现约 12种突变会导致精氨酸酶缺乏症，基因突变会导致该酶不稳定、比正常的结构短或者结构错误，甚至该基因不表达，鸟氨酸循环无法进行，氮无法转变为尿素进而排出体外，氨和精氨酸堆积造成毒性，损害神经系统

基因名称	基因全名	基因位置	外显子个数	CDS长度
ARG1	arginase, liver	6q23	8	约1496 bp
基因摘要	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].