Gene Symbol | MTHFR |
Entrez Gene ID | 4524 |
Full Name | methylenetetrahydrofolate reductase |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Homocystinuria due to MTHFR deficiency, 236250 (3); {Schizophrenia, susceptibility to}, 181500 (3); {Vascular disease, susceptibility to} (3); {Neural tube defects, susceptibility to}, 601634 (3); {Thromboembolism, susceptibility to}, 188050 (3) |