Literature associating GATM and creatine transporter deficiency
Glycine amidinotransferase (L-arginine:glycine amidinotransferase); 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; Belongs to the amidinotransferase family.
Synonyms: GATM, 102724493, H0YKW9, H0YLC6, H0YMX4 ...