Aliases for GATM Gene
External Ids for GATM Gene
Previous GeneCards Identifiers for GATM Gene
This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by cognitive disability, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]
GeneCards Summary for GATM Gene
GATM (Glycine Amidinotransferase) is a Protein Coding gene. Diseases associated with GATM include Cerebral Creatine Deficiency Syndrome 3 and L-Arginine:Glycine Amidinotransferase Deficiency. Among its related pathways are Metabolism and Urea cycle and metabolism of amino groups. GO annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines and glycine amidinotransferase activity.
UniProtKB/Swiss-Prot for GATM Gene
Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis.