该基因编码的蛋白质属于裂解酶 1 家族。它是参与嘌呤代谢的必需酶，催化嘌呤从头生物合成途径中的两个非顺序反应：琥珀酰氨基咪唑甲酰胺核糖肽 (SAICAR) 向氨基咪唑甲酰胺核糖肽 (AICAR) 的转化和腺苷酸琥珀酸 (S-AMP) 的转化) 到一磷酸腺苷 (AMP) 。该基因的突变与腺苷酸琥珀酸酶缺乏症 (ADSLD) 有关，ADSLD 是一种以精神运动迟缓、癫痫或自闭症为特征的疾病。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2015 年 12 月]

The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]