MTHFR methylenetetrahydrofolate reductase
Gene ID: 4524, updated on 3-Apr-2024Gene type: protein coding
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- Go to complete Gene record for MTHFR
- Go to Variation Viewer for MTHFR variants
Summary
The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. GeneReviews: Not available | |
| Genome-wide association study identifies eight loci associated with blood pressure. GeneReviews: Not available | |
| Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. GeneReviews: Not available | |
| Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. GeneReviews: Not available | |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | See labs |
| Neural tube defects, folate-sensitive | See labs |
| Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study. GeneReviews: Not available | |
| Schizophrenia | See labs |
| Thrombophilia due to thrombin defect | See labs |
| Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. GeneReviews: Not available |
Genomic context
- Location:
- 1p36.22
- Sequence:
- Chromosome: 1; NC_000001.11 (11785723..11805964, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MTHFR variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- MTHFR database
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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