GAMT

The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]

Full Name

Guanidinoacetate N-Methyltransferase

Function

Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor (PubMed:26003046, PubMed:24415674, PubMed:26319512).

Important in nervous system development (PubMed:24415674).

Biological Process

Animal organ morphogenesis Source: Ensembl
Creatine biosynthetic process Source: UniProtKB
Creatine metabolic process Source: Reactome
Methylation Source: UniProtKB-KW
Muscle contraction Source: ProtInc
Regulation of multicellular organism growth Source: Ensembl
Spermatogenesis Source: Ensembl

Cellular Location

Cytosol; Nucleus; Cytoplasm

Involvement in disease

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.