2.1.1.2: guanidinoacetate N-methyltransferase
This is an abbreviated version!
For detailed information about guanidinoacetate N-methyltransferase, go to the full flat file.
Reaction
Synonyms
GA methylpherase, GAA methyltransferase, GAMT, guanidinoacetate methyltransferase, guanidinoacetate N-methyltransferase, guanidinoacetate transmethylase, guanidoacetate methyltransferase, methionine-guanidinoacetic transmethylase, MIM 601240, N-guanidinoacetate methyltransferase, S-adenosyl-L-methionine:N-guanidinoacetate methyltransferase
ECTree
Advanced search results
General Information
General Information on EC 2.1.1.2 - guanidinoacetate N-methyltransferase
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
malfunction
physiological function
-
GAMT-cerebrospinal fluid knockout mice show decreased levels of creatine within their brain, which however still reach 1.4 mM or 0.4-0.5 mol/g of tissue, and a very significant increase in guanidinoacetate (1.9 mol/g tissue), GAMT knockout mice slowly replenish their brain creatine upon creatine treatment
malfunction
-
GAMT-deficient patients have strongly decreased levels of creatine in cerebrospinal fluid but are able to import creatine from the blood
malfunction
-
loss of GAMT causes a creatine deficiency syndrome that is characterized by neurological and motor dysfunction as well as developmental delay/regression, mental retardation, and related defects
malfunction
guanidinoacetate methyltransferase deficiency, GAMT-D, is an autosomal recessively inherited disorder of creatine biosynthesis. Creatine deficiency on cranial proton magnetic resonance spectroscopy, and elevated guanidinoacetate levels in body fluids are the biomarkers of GAMT-D, 50 different mutations in the GAMT gene have been identified with missense variants being the most common, phenotypes overview
physiological function
-
GAMT is not only involved in p53-dependent apoptosis in response to genotoxic stress but is important for apoptosis induced by glucose deprivation
physiological function
-
GAMT is not only involved in p53-dependent apoptosis in response to genotoxic stress but is important for apoptosis induced by glucose deprivation