GAMT Antibody – Mouse Monoclonal

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]

Catalytic activity: S-adenosyl-L-methionine + guanidinoacetate = S-adenosyl-L-homocysteine + creatine.

Pathway: Amine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 2/2.

Subunit structure: Monomer

By similarity.

Tissue specificity: Expressed in liver. Ref.9

Involvement in disease: Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16

Sequence similarities: Belongs to the class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family.Contains 1 RMT2 (arginine N-methyltransferase 2-like) domain.