MTHFD1L
The MTHFD1L gene encodes a mitochondrial enzyme involved in the folate cycle and one-carbon metabolism, specifically in the conversion of formate to 10-formyl-THF. This process supports purine synthesis and methylation reactions, which are essential for DNA and RNA production and cellular repair. Genetic variations in MTHFD1L can affect mitochondrial folate metabolism and have been associated with an increased risk of neural tube defects, cardiovascular problems, and impaired methylation. It plays a complementary role to the cytosolic MTHFD1 gene but functions within the mitochondria.
Description
It encodes a mitochondrial enzyme that contributes to folate metabolism and supports methylation and nucleotide synthesis.
While both are involved in one-carbon metabolism, MTHFD1L functions in the mitochondria, whereas MTHFD1 operates in the cytosol.
Variants may impair mitochondrial folate metabolism, potentially contributing to methylation problems or an increased risk of disease.
Yes, it has been linked to neural tube defects, cardiovascular diseases, and impaired detoxification or DNA synthesis.
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