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ADSL (adenylosuccinate lyase), also known as AMPS, ASL or ASASE, is a 484 amino acid protein that is involved in both purine biosynthesis and in the formation of adenosine monophosphate (AMP) from inosine monophosphate. Expressed ubiquitously, ADSL catalyzes two key reactions in AMP biosynthesis, namely the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and the subsequent removal of fumarate from adenylosuccinate to yield AMP. Defects in the gene encoding ADSL are the cause of adenylosuccinase deficiency (ADSL deficiency), an autosomal recessive disorder characterized by epilepsy, growth retardation and muscular wasting. Multiple isoforms of ADSL exist due to alternative splicing events.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Adenylosuccinase; Adenylosuccinate lyase; adenylosuccinate lyase 1; ADSL; ASase; ASL
基因别名: Adl; ADSL; AMPS; ASASE; ASL
UniProt ID: (Human) P30566, (Mouse) P54822
Entrez Gene ID: (Human) 158, (Mouse) 11564