| Protein Name | methylenetetrahydrofolate reductase |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 4524 |
| Gene Symbol | MTHFR |
| UniProt | P42898 (MTHR_HUMAN), Q8IU67 (Q8IU67_HUMAN), Q5SNW7 (Q5SNW7_HUMAN), Q59GJ6 (Q59GJ6_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
396
Total Number of Articles : 2537 |
Description |
methylenetetrahydrofolate reductase |
| 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.[provided by RefSeq, Oct 2009] |
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