GNMT Chromosome 6
Glycine N-methyltransferase
Upload your DNA to see your personal genotypes for variants in GNMT.
What This Gene Does
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]
Gene Info
Gene Group
"7BS small molecule methyltransferases|Small molecule methyltransferases"
Locus Type
gene with protein product
Location
6p21.1
Ensembl
ENSG00000124713
Associated Conditions (1)
Glycine N-methyltransferase deficiency
Key Variants
RS142613217
Conflicting classifications of pathogenicity
Health Risk
RS150118634
Conflicting classifications of pathogenicity
Health Risk
RS121907888
Pathogenic
Glycine N-methyltransferase deficiency, Glycine N-methyltransferase deficiency
Health Risk
RS864321678
Pathogenic
Glycine N-methyltransferase deficiency, Glycine N-methyltransferase deficiency
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142613217 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150118634 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS121907888 | Health Risk | Pathogenic | Glycine N-methyltransferase deficiency, Glycine N-methyltransferase deficiency |
| RS864321678 | Health Risk | Pathogenic | Glycine N-methyltransferase deficiency, Glycine N-methyltransferase deficiency |