Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor (PubMed:26003046, PubMed:24415674, PubMed:26319512). Important in nervous system development (PubMed:24415674).
Cerebral creatine deficiency syndrome 2
CCDS2
An autosomal recessive disorder characterized by developmental delay and regression, mental retardation, 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.
Amine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 2/2.
Belongs to the class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family.
Expressed in liver.
Proteins
26318Da
We found 7 products in 2 categories
ab229467
ab185414