Aliases for ADSL Gene
External Ids for ADSL Gene
Previous GeneCards Identifiers for ADSL Gene
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, Jul 2008]
GeneCards Summary for ADSL Gene
ADSL (Adenylosuccinate Lyase) is a Protein Coding gene. Diseases associated with ADSL include adenylosuccinase deficiency and histidinemia. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity and (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity.
UniProtKB/Swiss-Prot for ADSL Gene
Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate