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Immunogen sequence: MAAGGDHGS PDSYRSPLAS RYASPEMCFV FSDRYKFRTW RQLWLWLAEA EQTLGLPITD EQIQEMKSNL ENIDFKMAAE EEKRLRHDVM AHVHTFGHCC PKAAGIIHLG ATSCYVGDNT DLIILRNALD LLLPKLARVI SRLADFAKER ASLPTLGFTH FQPAQLTTVG KRCCLWIQDL CMDLQNLKRV RDDLRFRGVK GTTGTQASFL QLFEGDDHKV EQLDKMVTEK AGFKRAFIIT GQTYTRKVDI EVLSVLASLG ASVHKICTDI RLLANLKEME EPFEKQQIGS SAMPYKRNPM RSERCCSLAR HLMTLVMDPL QTASVQWFER TLDDSANRRI CLAEAFLTAD TILNT (1-354 aa encoded by BC000253)
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.
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Protein Aliases: Adenylosuccinase; Adenylosuccinate lyase; adenylosuccinate lyase 1; ADSL; ASase; ASL; test
Gene Aliases: Adl; ADSL; AMPS; ASASE; ASL; null
UniProt ID: (Human) P30566, (Mouse) P54822
Entrez Gene ID: (Human) 158, (Rat) 315150, (Mouse) 11564
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