Guanidinoacetate N-methyltransferase
Function
Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor (PubMed:24415674, PubMed:26003046, PubMed:26319512). Important in nervous system development (PubMed:24415674).
Involvement in disease
Cerebral creatine deficiency syndrome 2
CCDS2
An autosomal recessive disorder characterized by developmental delay and regression, intellectual disability, severe disturbance of expressive and cognitive speech, intractable seizures, movement disturbances, severe depletion of creatine and phosphocreatine in the brain, and accumulation of guanidinoacetic acid in brain and body fluids.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Amine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 2/2.
Sequence Similarities
Belongs to the class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family.
Tissue Specificity
Expressed in liver.
Alternative names
Guanidinoacetate N-methyltransferase, GAMT