MTHFR
Methylenetetrahydrofolate Reductase
Gene Number: 4524
Location: 1p36.22
Key Functions: Folate metabolism, homocysteine regulation, DNA methylation, cardiovascular and neurological health
MTHFR encodes methylenetetrahydrofolate reductase, a key enzyme involved in processing folate into its bioactive form. This activated folate supports the conversion of homocysteine to methionine and enables DNA methylation—critical for gene expression, neural development, and cardiovascular protection.
Reduced MTHFR function due to genetic variants such as C677T or A1298C may impair folate metabolism, leading to elevated homocysteine levels and increasing the risk of cardiovascular disease, neural tube defects, pregnancy complications, and neuropsychiatric conditions.
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs1801133 | No matching variant or no valid DNA data | A | No interpretation available |
rs1801131 | No matching variant or no valid DNA data | G | No interpretation available |
rs1801133 (C677T, Ala222Val)
GG – Normal enzyme activity (~100%); normal homocysteine and folate processing (R).
AG – ~65% enzyme activity; moderate elevation of homocysteine; increased risk in low-folate states (R).
AA – ~10–30% enzyme activity; high homocysteine, reduced folate/B12, linked to neural tube defects, thrombosis, and cancer in low-folate contexts (R).
Functional effect: The A allele (677T) reduces MTHFR activity, elevates homocysteine, and increases disease risk when folate/B12 intake is insufficient; adequate folate can mitigate risk.
rs1801131 (A1298C, Glu429Ala)
TT – Normal enzyme activity; baseline folate/homocysteine metabolism (R).
TG – Slightly reduced activity; possible impaired folate metabolism and mild homocysteine elevation (R).
GG – Slightly reduced activity; possible impaired folate metabolism and mild homocysteine elevation (R).
Functional effect: The G allele (1298C) reduces enzyme activity (less than rs1801133), but in combination with 677T (rs1801133 A allele), it further increases risk for neural tube defects, brain tumors, and cardiovascular/metabolic disease.
Learn more about what you can do to mitigate risks, and other factors involved by becoming a member of GenesUnveiled today!