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Sequence of this protein is as follows: MAAGGDHGSP DSYRSPLASR YASPEMCFVF SDRYKFRTWR QLWLWLAEAE QTLGLPITDE QIQEMKSNLE NIDFKMAAEE EKRLRHDVMA HVHTFGHCCP KAAGIIHLGA TSCYVGDNTD LIILRNALDL LLPKLARVIS RLADFAKERA SLPTLGFTHF QPAQLTTVGK RCCLWIQDLC MDLQNLKRVR DDLRFRGVKG TTGTQASFLQ LFEGDDHKVE QLDKMVTEKA GFKRAFIITG QTYTRKVDIE VLSVLASLGA SVHKICTDIR LLANLKEMEE PFEKQQIGSS AMPYKRNPMR SERCCSLARH LMTLVMDPLQ TASVQWFERT LDDSANRRIC LAEAFLTADT ILNTLQNISE GLVVYPKVIE RRIRQELPFM ATENIIMAMV KAGGSRQDCH EKIRVLSQQA ASVVKQEGGD NDLIERIQVD AYFSPIHSQL DHLLDPSSFT GRASQQVQRF LEEEVYPLLK PYESVMKVKA ELCL
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; ADSL; ASase
基因别名: ADSL; AMPS; ASASE; ASL
UniProt ID: (Human) P30566
Entrez Gene ID: (Human) 158
分子生物学功能:
lyase