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Target intelligence / Profile preview
Methylenetetrahydrofolate dehydrogenase [NADP+ dependent] 1 (MTHFD1)
- Target
- MTHFD1
- Molecular classification
- Enzyme
01
Overview
MTHFD1 encodes a cytoplasmic trifunctional enzyme (C-1-tetrahydrofolate synthase) that catalyzes sequential reactions in the interconversion of one-carbon derivatives of tetrahydrofolate. These derivatives are essential for purine, thymidylate, and methionine synthesis. Mutations and variants are linked to various developmental defects and metabolic disorders.
- Other names
- C-1-tetrahydrofolate synthaseC1-THF synthase
02
Mechanism of action
Inhibition of enzymatic activity could theoretically be a mechanism, although not a common therapeutic strategy.
03
Biological functions
One-carbon metabolismNucleotide biosynthesisThymidylate biosynthesisMethionine synthesisFolic acid metabolism
04
Disease associations
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)Neural tube defectsCongenital heart defects (Tetralogy of Fallot, aortic stenosis)
05
Safety considerations
Folic acid supplementation interactions with MTHFD1 variantsPotential developmental defects in individuals with MTHFD1 deficiency or variants and insufficient folate intake
06
Biomarkers
rs2236225 (p.Arg653Gln) genotype for risk assessment of neural tube defects and congenital heart defectsMTHFD1 expression levels as a potential indicator of folate metabolism status
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