| Entrez gene ID | | 4524 |
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| Official gene symbol | | MTHFR |
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| Full name | | methylenetetrahydrofolate reductase (NAD(P)H) |
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| Aliases | | ,-, |
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| Gene 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. |
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| Location | | Chromosome: 1 Locus: 1p36.3 |
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| Gene position | | 11866160 - 11845787 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 20374 bp |
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| Gene sequence |
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