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 issues, and impaired methylation. It plays a complementary role to the cytosolic MTHFD1 gene but operates within the mitochondria.
Description
It encodes a mitochondrial enzyme that contributes to folate metabolism and supports methylation and nucleotide synthesis.
While both participate in one-carbon metabolism, MTHFD1L functions in the mitochondria, whereas MTHFD1 operates in the cytosol.
Variants may disrupt mitochondrial folate metabolism, potentially leading to methylation problems or a heightened risk of disease.
Yes, it has been linked to neural tube defects, cardiovascular conditions, and impaired detoxification or DNA synthesis.
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