Gene: CNPY3-GNMT

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: GNMT

Alternate names for this Gene: HEL-S-182mP

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.1

Description of this Gene: glycine N-methyltransferase

Type of Gene: protein-coding

rs10948059 in CNPY3-GNMT;GNMT gene and High density lipoprotein measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs864321678 in CNPY3-GNMT;GNMT gene and Hypermethioninemia due to deficiency of glycine N-methyltransferase PMID 11810299 2002 Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism.

PMID 14739680 2003 Glycine N -methyltransferase deficiency: a new patient with a novel mutation.