GNMT

Chr 6p21.1

glycine N-methyltransferase

MANE:: ENST00000372808.4

OMIM: 606628 ↗NCBI: 27232 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GNMT · Q14749

v62025-08-01

Predicted Aligned Error matrix for GNMT — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.4/ 100

Confident

295 residues

Confidence breakdown

Very high(≥ 90)69%
Confident(70–90)21%
Low(50–70)8%
Very low(< 50)3%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

glycine N-methyltransferase deficiency
0.71
neurodegenerative disease
0.24
hepatocellular carcinoma
0.12
metabolic dysfunction-associated steatotic liver disease
0.10
metabolic dysfunction-associated steatohepatitis
0.09
neoplasm
0.08
prostate carcinoma
0.07
Familial prostate cancer
0.07
prostate cancer
0.07
progressive familial intrahepatic cholestasis
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Glycine N-methyltransferase

Catalyzes the methylation of glycine by using S-adenosylmethionine (AdoMet) to form N-methylglycine (sarcosine) with the concomitant production of S-adenosylhomocysteine (AdoHcy), a reaction regulated by the binding of 5-methyltetrahydrofolate. Plays an important role in the regulation of methyl group metabolism by regulating the ratio between S-adenosyl-L-methionine and S-adenosyl-L-homocysteine