Dihydrofolate reductase
Function
Key enzyme in folate metabolism. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Catalyzes an essential reaction for de novo glycine and purine synthesis, and for DNA precursor synthesis. Binds its own mRNA and that of DHFR2.
Involvement in disease
Megaloblastic anemia due to dihydrofolate reductase deficiency
DHFRD
An inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency. Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning difficulties, to lack of symptoms.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Cofactor biosynthesis; tetrahydrofolate biosynthesis; 5,6,7,8-tetrahydrofolate from 7,8-dihydrofolate: step 1/1.
Sequence Similarities
Belongs to the dihydrofolate reductase family.
Tissue Specificity
Widely expressed in fetal and adult tissues, including throughout the fetal and adult brains and whole blood. Expression is higher in the adult brain than in the fetal brain.
Cellular localization
- Mitochondrion
- Cytoplasm
Alternative names
Dihydrofolate reductase, DHFR