Entrez gene ID | | 158 |
Official gene symbol | | ADSL |
Full name | | adenylosuccinate lyase |
Aliases | | ,AMPS,ASASE,ASL, |
Gene summary | | Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 22 Locus: 22q13.1|22q13.2 |
Gene position | | 40742504 - 40762577 Map Viewer |
Gene orientation | | plus |
Gene size | | 20074 bp |
Gene sequence |
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OMIM ID | | 608222 |
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