Recombinant Human Adenylosuccinate lyase (ADSL)

Uniprot Id

P30566

Target Species

Human

Target Name

ADSL

Target Full Name

Adenylosuccinate lyase

Target Function

Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate.

Target Involvement

Adenylosuccinase deficiency (ADSLD)

Target Protein Families

Lyase 1 family, Adenylosuccinate lyase subfamily

Target Tissue Specificity

Ubiquitously expressed. Both isoforms are produced by all tissues. Isoform 2 is 10-fold less abundant than isoform 1.

Target Synonyms

Adenylosuccinase; Adenylosuccinate lyase; ADSL; AMPS; ASase; ASL; OTTHUMP00000199172; OTTHUMP00000199173; PUR8_HUMAN

Target 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.