{"symbol":"ADSL","synonyms":["AMPS","ASASE","ASL"],"name":"adenylosuccinate lyase","description":"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]","ncbiEntrezGeneId":158,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/158","proteins":[{"symbol":"PUR8_HUMAN","href":"/api/1.0/protein/PUR8_HUMAN"}],"hgncRootFamilies":[]}