Adenylosuccinate Lyase (ADSL) Antibody – Rabbit Polyclonal

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]

ADSL: Defects in ADSL are the cause of adenylosuccinase deficiency (ADSL deficiency). ADSL deficiency is an autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present. Belongs to the lyase 1 family. Adenylosuccinate lyase subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 4.3.2.2; Nucleotide Metabolism - purine; Amino Acid Metabolism - alanine, aspartate and glutamate; Lyase

Chromosomal Location of Human Ortholog: 22q13.2

Cellular Component: cytosol; mitochondrion

Molecular Function: adenylosuccinate lyase activity

Biological Process: 'de novo' IMP biosynthetic process; aerobic respiration; AMP biosynthetic process; nucleobase, nucleoside and nucleotide metabolic process; protein tetramerization; purine base metabolic process; purine nucleotide biosynthetic process; purine ribonucleoside monophosphate biosynthetic process; response to hypoxia; response to muscle activity; response to nutrient; response to starvation

Disease: Adenylosuccinase Deficiency