DHFR

Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid, and certain amino acids. While the functional dihydrofolate reductase gene has been mapped to chromosome 5, multiple intronless processed pseudogenes or dihydrofolate reductase-like genes have been identified on separate chromosomes. Dihydrofolate reductase deficiency has been linked to megaloblastic anemia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]

dihydrofolate reductase

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.

Axon regeneration Source: BHF-UCL
Dihydrofolate metabolic process Source: BHF-UCL
Folic acid metabolic process Source: BHF-UCL
Glycine biosynthetic process Source: InterPro
Negative regulation of translation Source: CAFA
One-carbon metabolic process Source: UniProtKB-KW
Positive regulation of nitric-oxide synthase activity Source: BHF-UCL
Regulation of removal of superoxide radicals Source: BHF-UCL
Regulation of transcription involved in G1/S transition of mitotic cell cycle Source: Reactome
Response to methotrexate Source: BHF-UCL
Tetrahydrobiopterin biosynthetic process Source: BHF-UCL
Tetrahydrofolate biosynthetic process Source: BHF-UCL
Tetrahydrofolate metabolic process Source: UniProtKB

Cytoplasm; Mitochondrion

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.