GENETIC ENCYCLOPEDIA
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gene: MTHFR

id4524
symbolMTHFR
organismHomo sapiens
full namemethylenetetrahydrofolate reductase
summaryThe 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]
variant-disease

NM_005957.4(MTHFR):c.117C>T (p.Pro39=) AND not specified

NM_005957.4(MTHFR):c.1949C>T (p.Ala650Val) AND Neural tube defects, folate-sensitive

NM_005957.4(MTHFR):c.1011G>A (p.Gly337=) AND Neural tube defects, folate-sensitive

NM_005957.4(MTHFR):c.870C>T (p.Asn290=) AND Neural tube defects, folate-sensitive

NM_005957.4(MTHFR):c.1761C>T (p.Ala587=) AND Neural tube defects, folate-sensitive

... 291 more


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