GNMT Antibody – Mouse Monoclonal

The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. The encoded protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). [provided by RefSeq, Oct 2008]

GNMT: Catalyzes the methylation of glycine by using S- adenosylmethionine (AdoMet) to form N-methylglycine (sarcosine) with the concomitant production of S-adenosylhomocysteine (AdoHcy). Possible crucial role in the regulation of tissue concentration of AdoMet and of metabolism of methionine. Defects in GNMT are the cause of glycine N- methyltransferase deficiency (GNMT deficiency); also known as hypermethioninemia. The only clinical abnormalities in patients with this deficiency are mild hepatomegaly and chronic elevation of serum transaminases. Belongs to the class I-like SAM-binding methyltransferase superfamily. Glycine N-methyltransferase family.

Protein type: Methyltransferase; Amino Acid Metabolism - glycine, serine and threonine; EC 2.1.1.20

Chromosomal Location of Human Ortholog: 6p12

Cellular Component: cytoplasm

Molecular Function: protein binding; glycine N-methyltransferase activity; glycine binding; folic acid binding

Biological Process: glycogen metabolic process; methylation; S-adenosylmethionine metabolic process; protein modification process; methionine metabolic process; regulation of gluconeogenesis; one-carbon compound metabolic process; protein homotetramerization

Disease: Glycine N-methyltransferase Deficiency