MTHFD2


Description

The MTHFD2 (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase) is a protein-coding gene located on chromosome 2.

The MTHFD2 gene encodes a nuclear-encoded mitochondrial bifunctional enzyme, responsible for both methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. This enzyme operates as a homodimer and uniquely requires magnesium and inorganic phosphate for its activity. The formation of the enzyme-magnesium complex facilitates NAD binding. The gene undergoes alternative splicing, resulting in various transcripts encoding different isoforms. Furthermore, a pseudogene of this gene is located on chromosome 7.

MTHFD2 is also known as NMDMC.

Associated Diseases



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