Target intelligence / Profile preview

C-1-tetrahydrofolate synthase, cytoplasmic (MTHFD1)

Target
MTHFD1
Molecular classification
Enzyme, Multifunctional enzyme
01

Overview

MTHFD1 encodes a trifunctional enzyme that catalyzes sequential reactions in the interconversion of one-carbon derivatives of tetrahydrofolate. These reactions are essential for methionine synthesis, thymidylate synthesis, and de novo purine biosynthesis. Mutations in MTHFD1 can cause methylenetetrahydrofolate dehydrogenase 1 deficiency, leading to immune dysfunction and anemia.

Other names
C1-THF synthaseMethylenetetrahydrofolate dehydrogenase/Cyclohydrolase 1MTHFCMTHFDMethenyltetrahydrofolate cyclohydrolaseFormyltetrahydrofolate synthetase
02

Biological functions

Methionine synthesisThymidylate synthesisDe novo purine biosynthesisFolate-dependent one-carbon metabolism
03

Disease associations

Methylenetetrahydrofolate dehydrogenase 1 deficiencyCombined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)Immune dysfunctionAnemia
04

Safety considerations

Potential for disrupting nucleotide and amino acid biosynthesisRare inherited disorders affecting immunity and red blood cell formation

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