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What does the MTHFR gene do?

The MTHFR gene provides instructions for your body to make the MTHFR protein, which helps your body process folate. Your body needs folate to make DNA and modify proteins. 1

Is MTHFR 1298cc homozygous or heterozygous?

MTHFR A1298C (rs1801131) or GT is heterozygous (single gene mutation) MTHFR 1298CC (rs1801131) or GG is homozygous (a double gene mutation) MTHFR CC677 (rs1801133) or GG is normal (no gene mutation) MTHFR C677T (rs1801133) or AG is heterozygous (single gene mutation) MTHFR 677TT (rs1801133) or AA is homozygous (a double gene mutation)

What is MTHFR (methylfolate)?

MTHFR is a critical enzyme in the body. It’s required for a metabolic process that repairs DNA, switches genes on and off, and numerous other important functions ( 1 ). MTHFR is also essential to convert folate and folic acid – each a form of Vitamin B9 – into the biologically active form called L-methylfolate (or 5-MTHF).

What is the most common variant of MTHFR?

The most common variant in the MTHFR gene is MTHFR C677T. 2 This variant may also be referred to as MTHFR 677 C>T or MTHFR 677 C→T. This means at the 677 position in the MTHFR gene, “C” is the expected DNA base and “T” is the gene variant. 3


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