Background：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.
