Aliases for GAMT Gene
External Ids for GAMT Gene
Previous GeneCards Identifiers for GAMT Gene
The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]
GeneCards Summary for GAMT Gene
GAMT (Guanidinoacetate N-Methyltransferase) is a Protein Coding gene. Diseases associated with GAMT include Cerebral Creatine Deficiency Syndrome 2 and Cerebral Creatine Deficiency Syndrome. Among its related pathways are p53 Pathway (RnD) and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include methyltransferase activity and guanidinoacetate N-methyltransferase activity.
UniProtKB/Swiss-Prot for GAMT Gene
Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor (PubMed:26003046, PubMed:24415674, PubMed:26319512). Important in nervous system development (PubMed:24415674).