GAMT Rabbit Polyclonal Antibody (HA500071)

UNIPROT #

Q14353

PROTEIN NAME

GAMT

SYNONYMS

CCDS2 antibody;Epididymis secretory protein Li 20 antibody;GAMT antibody;GAMT_HUMAN antibody;Guanidinoacetate N methyltransferase antibody;Guanidinoacetate N-methyltransferase antibody;HEL-S-20 antibody;PIG2 antibody;TP53I2 antibody

SUBCELLULAR LOCATION

Cytosol,nucleus,cytoplasm.

FUNCTION

Guanidinoacetate N-methyltransferase (EC 2.1.1.2) is an enzyme that catalyzes the chemical reaction and is encoded by gene GAMT located on chromosome 19p13.3.This enzyme belongs to the family of transferases, specifically those transferring one-carbon group methyltransferases. The systematic name of this enzyme class is S-adenosyl-L-methionine:N-guanidinoacetate methyltransferase. Other names in common use include GA methylpherase, guanidinoacetate methyltransferase, guanidinoacetate transmethylase, methionine-guanidinoacetic transmethylase, and guanidoacetate methyltransferase. This enzyme participates in glycine, serine and threonine metabolism and arginine and proline metabolism.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.