检测编号：NS0150026

基因 ASL 与疾病

ASL基因编码精氨琥珀酸裂解酶，在鸟氨酸循环中起到重要作用。已发现30多种突变，包括短片段缺失和点突变。在阿拉伯族群中发现最常见突变是Q354X.该酶活性缺失使精氨琥珀酸中的氨基不能转化为尿素，而形成有害代谢产物，对机体造成损害。

基因名称	基因全名	基因位置	外显子个数	CDS长度
ASL	argininosuccinate lyase	7q11.21	17	约2060 bp
基因摘要	This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008].