EC Number   |
General Information |
Reference |
|---|
    2.1.1.2 | malfunction |
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 |
688183 |
| 2.1.1.2 | malfunction |
GAMT-deficient patients have strongly decreased levels of creatine in cerebrospinal fluid but are able to import creatine from the blood |
688183 |
| 2.1.1.2 | 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 |
733954 |
| 2.1.1.2 | 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 |
705726 |
| 2.1.1.2 | physiological function |
creatine synthesis |
703632 |
| 2.1.1.2 | 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 |
705727 |
