MTHFS
Description
The MTHFS gene provides instructions for making methylenetetrahydrofolate reductase (MTHFR), an enzyme that plays a crucial role in folate metabolism. Folate, a B vitamin, is essential for DNA synthesis and repair, cell division, and the production of red blood cells. MTHFR converts dihydrofolate to tetrahydrofolate, a coenzyme required for numerous metabolic processes. This gene‘s function is crucial for maintaining normal development and overall health.
Associated Diseases
- Neural tube defects (NTDs)
- Hyperhomocysteinemia
- Cardiovascular disease
- Depression
- Cancer
- Infertility
Did you know?
Variations in the MTHFS gene are common and can affect enzyme activity, leading to altered folate metabolism.