MTHFR

Full Name: Methylenetetrahydrofolate Reductase

Genomic Location: Chromosome 1:11,785,723-11,806,920

Protein Size: 656 amino acids

Function:

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.

Linked SNP(s):

  • rs1801133 is linked to MTHFR, it is located within the protein coding region.
  • Population frequencies are approximately 69% for the reference allele (C) and 31% for the alternate allele (T).
  • Studies suggest the T allele is associated with low B12 levels and increased risk for depression.
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