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Unless otherwise stated all data on this page refer to the human proteins. Gene information is provided for human (Hs), mouse (Mm) and rat (Rn).
Arginine:glycine amidinotransferase is a mitochondrial enzyme that is involved in creatine biosynthesis.
AGAT (Arginine:glycine amidinotransferase) C Show summary » |
Database page citation:
Arginine:glycine amidinotransferase. Accessed on 19/01/2021. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/FamilyDisplayForward?familyId=251.
Concise Guide to PHARMACOLOGY citation:
Alexander SPH, Fabbro D, Kelly E, Mathie A, Peters JA, Veale EL, Armstrong JF, Faccenda E, Harding SD, Pawson AJ, Sharman JL, Southan C, Davies JA; CGTP Collaborators. (2019) The Concise Guide to PHARMACOLOGY 2019/20: Enzymes. Br J Pharmacol. 176 Issue S1: S297-S396.
Missense mutations in GATM which disrupt creatine synthesis, underlie creatine deficiency syndromes which are characterised by cognitive disability, language impairment, and behavioural disorders.