MTHFS

Chr 15q25.1

methenyltetrahydrofolate synthetase

Aliases:: HsT19268
MANE:: ENST00000258874.4

OMIM: 604197 ↗NCBI: 10588 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

MTHFS · P49914

v62025-08-01

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

Mean pLDDT

95.1/ 100

Very high

203 residues

Confidence breakdown

Very high(≥ 90)92%
Confident(70–90)6%
Low(50–70)2%
Very low(< 50)1%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
0.72
neurodegenerative disease
0.36
lysosomal storage disease
0.34
Alzheimer disease
0.34
Parkinson disease
0.29
multiple sclerosis
0.29
inflammatory bowel disease
0.18
hypertensive disorder
0.12
early-onset non-syndromic cataract
0.10
Posterior polar cataract
0.09

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

Protein function (UniProt)

5-formyltetrahydrofolate cyclo-ligase

Contributes to tetrahydrofolate metabolism. Helps regulate carbon flow through the folate-dependent one-carbon metabolic network that supplies carbon for the biosynthesis of purines, thymidine and amino acids. Catalyzes the irreversible conversion of 5-formyltetrahydrofolate (5-FTHF) to yield 5,10-methenyltetrahydrofolate