2024年6月3日 · It stands for methylenetetrahydrofolate reductase, and having this mutation may lead to high levels of homocysteine in the blood and low levels of folate and other vitamins. Its main function is...

2023年11月24日 · What is an MTHFR mutation? Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that breaks down the amino acid homocysteine. If the MTHFR gene that codes for this enzyme mutates, it may...

2012年3月8日 · Methylenetetrahydrofolate Reductase (MTHFR) Deficiency is the most common genetic cause of elevated levels of homocysteine in the plasma (hyperhomocysteinemia). The MTHFR enzyme plays an important role in processing amino acids, specifically, the conversion of homocysteine to methionine.

Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine. Natural variation in this gene is common in otherwise healthy people.

2024年9月22日 · Folate is required to break down homocysteine, an amino acid. If you have an MTHFR gene mutation, your body may not break down folate as well as it should. This leads to increased levels of...

Located on chromosome 1 at position p36.3, the methylenetetrahydrofolate reductase gene is a blueprint for the production of a critical enzyme known as the methylenetetrahydrofolate reductase mthfr protein.

The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. Learn about this gene and related health conditions.

Methylenetetrahydrofolate reductase deficiency is the most common genetic cause of elevated serum levels of homocysteine (hyperhomocysteinemia). It is caused by genetic defects in MTHFR , which is an important enzyme in the methyl cycle.

2024年5月15日 · People with an MTHFR gene variant can process all types of folate, including folic acid. Getting 400 mcg of folic acid daily can help prevent neural tube defects (NTDs). Folic acid intake is more important for determining blood folate levels than having an MTHFR variant. MTHFR gene: What is it?

Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme in folate and homocysteine metabolism. Research performed during the past decade has clarified our understanding of MTHFR deficiencies that cause hyperhomocysteinemia with homocystinuria, or mild hyperhomocysteinemia.