ADSL, Official Symbol ADSLprovided by HGNC Official Full Name adenylosuccinate lyaseprovided by HGNC Primary source HGNC:HGNC:291 See related Ensembl:ENSG00000239900 MIM:608222; AllianceGenome:HGNC:291 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ASL; AMPS; ASASE Summary 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] Expression Ubiquitous expression in lymph node (RPKM 10.5), testis (RPKM 9.0) and 25 other tissues See more Orthologs mouse all