Recombinant Human Glycine N-methyltransferase (GNMT)

Uniprot Id

Q14749

Target Species

Human

Target Name

GNMT

Target Full Name

Glycine N-methyltransferase

Target Function

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.

Target Involvement

Glycine N-methyltransferase deficiency (GNMT deficiency)

Target Subcellular Location

Cytoplasm.

Target Protein Families

Class I-like SAM-binding methyltransferase superfamily, Glycine N-methyltransferase family

Target Tissue Specificity

Abundant in liver.

Target Synonyms

EC 2.1.1.20; Epididymis secretory sperm binding protein Li 182mP; Glycine N methyltransferase; Glycine N-methyltransferase; Gnmt; GNMT_HUMAN; HEL S 182mP; OTTHUMP00000016412

Target Background

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.