MTHFD2L

MTHFD2L, also known as methylenetetrahydrofolate dehydrogenase, metallopeptidase and formyltetrahydrofolate synthetase 2-like, is a protein-coding gene found in humans. This gene encodes a bifunctional enzyme that plays a role in folate metabolism. Specifically, it exhibits both formyltetrahydrofolate synthetase and methylenetetrahydrofolate dehydrogenase activities. These activities are crucial for the interconversion of folate derivatives, which are essential cofactors in one-carbon metabolism. One-carbon metabolism is a fundamental biochemical pathway involved in the synthesis of nucleotides, amino acids, and other vital biomolecules.

The protein encoded by MTHFD2L is thought to be localized to the mitochondria. Its precise physiological functions are still being investigated, but it is believed to contribute to the cellular supply of tetrahydrofolate, the active form of folic acid. Dysregulation of folate metabolism has been implicated in various diseases, including certain cancers and developmental disorders. While MTHFD2L shares sequence homology with other methylenetetrahydrofolate dehydrogenase and formyltetrahydrofolate synthetase enzymes, its specific role and potential involvement in disease pathogenesis are areas of ongoing research. Studies are exploring its expression patterns in different tissues and its potential contribution to cellular metabolic flexibility.