External Ids for DHFR Gene
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]
GeneCards Summary for DHFR Gene
DHFR (Dihydrofolate Reductase) is a Protein Coding gene. Diseases associated with DHFR include megaloblastic anemia due to dihydrofolate reductase deficiency and pneumocystosis. Among its related pathways are Disease and Cell Cycle, Mitotic. An important paralog of this gene is DHFRL1.
UniProtKB/Swiss-Prot for DHFR Gene
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 DHFRL1.
Dihydrofolate reductase (DHFR) is a member of the reductase family of enzymes that is ubiquitously expressed in all organisms. It catalyzes tetrahydrofolate regeneration by reduction of dihydrofolate, using NADPH as a cofactor. Tetrahydrofolate is essential for de novo purine and thymidylate synthesis, hence DHFR has a critical role in cell growth and proliferation. DHFR is the target for many anticancer and antibiotic therapies including methotrexate and trimethoprim. Basal and regulated DHFR gene expression is controlled by Sp1 and E2F family transcription factors respectively and levels of this enzyme peak at the G1/S cell cycle boundary. Autoregulation, through DHFR-RNA interactions, has also been reported. The human gene encoding this enzyme is localized to 5q11.2-13.2.