ADSL antibody

ADSL (adenylosuccinate lyase) is also named as AMPS, ASase, ASL and belongs to the lyase 1 family. It is an enzyme involved in 2 pathways of purine nucleotide metabolism and catalyzes cleavage of succinyl groups to yield fumarate (PMID:18524658) . Defects in ADSL are the cause of adenylosuccinase deficiency (ADSL deficiency) . In humans, mutations in ADSL lead to an inborn error of metabolism originally characterized by developmental delay, often with autistic features (PMID:20884265) ..The ADSL enzymatic activity is reduced in lymphocytes and red blood cells of the patient with severe psychomotor retardation (PMID:9545543) . It has 2 isoforms produced by alternative splicing.