MTHFD1L
The MTHFD1L gene encodes a mitochondrial enzyme involved in the folate cycle and one-carbon metabolism, specifically in converting 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 impact mitochondrial folate metabolism and have been linked to a higher risk of neural tube defects, cardiovascular problems, and impaired methylation. It functions complementarily to the cytosolic MTHFD1 gene but operates within the mitochondria.
Description
It encodes a mitochondrial enzyme involved in folate metabolism and aids in methylation and nucleotide synthesis.
While both are involved in one-carbon metabolism, MTHFD1L functions in the mitochondria, whereas MTHFD1 acts in the cytosol.
Variants may disrupt mitochondrial folate metabolism, potentially leading to methylation problems or a higher risk of disease.
Yes, it has been linked to neural tube defects, cardiovascular conditions, and impaired detoxification or DNA synthesis.
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