MTHFR Chromosome 1
Methylenetetrahydrofolate reductase
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What This Gene Does
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]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
1p36.22
Ensembl
ENSG00000177000
Associated Conditions (27)
MTHFR THERMOLABILE POLYMORPHISM
Gastrointestinal stromal tumor
Neural tube defects
folate-sensitive
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
methotrexate response - Toxicity
Thrombophilia due to thrombin defect
See cases
Schizophrenia
Inborn genetic diseases
MTHFR-related disorder
Intellectual disability
Global developmental delay
Lower limb spasticity
Bilateral tonic-clonic seizure
Mental deterioration
Delayed speech and language development
Clear cell carcinoma of kidney
Generalized cerebral atrophy/hypoplasia
Familial cancer of breast
+7 more conditions
Key Variants
RS1801133
drug response
MTHFR THERMOLABILE POLYMORPHISM, Gastrointestinal stromal tumor, Neural tube defects
Drug Response
RS1056919085
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
Health Risk
RS1057519360
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
Health Risk
RS115049252
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Inborn genetic diseases, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Health Risk
RS121434296
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
Health Risk
RS138189536
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Health Risk
RS139645527
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
Health Risk
RS142612062
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
Health Risk
RS142617551
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
Health Risk
RS143428827
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Inborn genetic diseases, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Health Risk
RS144594875
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Health Risk
RS144921426
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Inborn genetic diseases, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Health Risk
Related Biomarkers (2)
Folate
monitor
strong
Vitamin B12
supports interpretation
moderate
Related Supplements (3)
Methylfolate (5-MTHF) may support
strong
MTHFR C677T — methylfolate bypasses reduced enzyme activity
Riboflavin (B2) may support
moderate
MTHFR C677T — riboflavin stabilises the MTHFR enzyme
Vitamin B12 (methylcobalamin) may support
moderate
MTHFR C677T — supports methylation cycle
All Variants (202)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1644355976 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
| RS200688214 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
| RS2100506903 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2100522053 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS2100524602 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS2100528352 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
| RS2100562061 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
| RS2522807898 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS2522808827 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS2522808874 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS2522816970 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
| RS2522817085 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS2522818414 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS2522818894 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS2522835100 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS2522835468 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
| RS2522854199 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS2522854585 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS2522854675 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS2522857846 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive |
| RS2522866049 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS2522873347 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS2522876133 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
| RS2522880559 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS2522885017 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
| RS2522897537 | Health Risk | Likely pathogenic | — |
| RS2522899174 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS2522941954 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS2522942894 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS2522943706 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive |
| RS2522978414 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS2522980498 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS267606887 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
| RS545086633 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive |
| RS748397580 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive |
| RS750339037 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS750752838 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
| RS754015864 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, MTHFR-related disorder |
| RS755483936 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
| RS760886915 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
| RS761870682 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Neural tube defects |
| RS768434408 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive |
| RS776430173 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
| RS776483190 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive |
| RS786204007 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive |
| RS786204010 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
| RS786204013 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive |
| RS786204016 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
| RS786204020 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
| RS786204026 | Health Risk | Likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency |