GNMT Antibody – Rabbit Polyclonal

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. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between the upstream CNPY3 (canopy FGF signaling regulator 3) gene and this gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]

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: Amino Acid Metabolism - glycine, serine and threonine; Methyltransferase; 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: methylation; glycogen metabolic process; S-adenosylmethionine metabolic process; protein modification process; regulation of gluconeogenesis; methionine metabolic process; one-carbon compound metabolic process; protein homotetramerization

Disease: Glycine N-methyltransferase Deficiency