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.

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Description

What is the function of the MTHFD1L gene?

It encodes a mitochondrial enzyme that contributes to folate metabolism and supports methylation and nucleotide synthesis.

How does MTHFD1L differ from MTHFD1?

While both are involved in one-carbon metabolism, MTHFD1L functions in the mitochondria, whereas MTHFD1 operates in the cytosol.

What might occur if you have a variant in MTHFD1L?

Variants may impair mitochondrial folate metabolism, potentially contributing to methylation problems or an increased risk of disease.

Is MTHFD1L associated with particular health conditions?

Yes, it has been linked to neural tube defects, cardiovascular diseases, and impaired detoxification or DNA synthesis.

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Content
What is the function of the MTHFD1L gene?
How does MTHFD1L differ from MTHFD1?
What might occur if you have a variant in MTHFD1L?
Is MTHFD1L associated with particular health conditions?
What is the function of the MTHFD1L gene?
How does MTHFD1L differ from MTHFD1?
What might occur if you have a variant in MTHFD1L?
Is MTHFD1L associated with particular health conditions?
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