Top ▲
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 11/12/2023. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/FamilyDisplayForward?familyId=251.
Concise Guide to PHARMACOLOGY citation:
Alexander SP, Fabbro D, Kelly E, Mathie A, Peters JA, Veale EL et al. (2021) THE CONCISE GUIDE TO PHARMACOLOGY 2021/22: Enzymes. Br J Pharmacol. 178 Suppl 1:S313-S411.
Missense mutations in GATM which disrupt creatine synthesis, underlie creatine deficiency syndromes which are characterised by cognitive disability, language impairment, and behavioural disorders.