DISEASES

Disease-gene associations mined from literature

Literature associating GATM and creatine transporter deficiency

GATM [ENSP00000379895]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM