检测编号：NS0160027

基因 ASS1 与疾病

正常情况下，瓜氨酸与天冬氨酸结合形成精氨琥珀酸。ASS1基因指导合成精氨琥珀酸合成酶，该基因突变导致酶活性丧失，瓜氨酸与氨便积累起来，结果便会发生失禁、失眠、出汗、呕吐、腹泻、惊厥、精神异常、甚至阵发性昏迷。已发现50多种突变。

基因名称	基因全名	基因位置	外显子个数	CDS长度
ASS1	argininosuccinate synthase 1	9q34.1	16	约1848 bp
基因摘要	The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012].