Dihydrofolate Reductase (DHFR) Antibody

DHFR: 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. Defects in DHFR are the cause of megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD). DHFRD is 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. Belongs to the dihydrofolate reductase family.

Protein type: Cofactor and Vitamin Metabolism - folate biosynthesis; Cofactor and Vitamin Metabolism - one carbon pool by folate; EC 1.5.1.3; Oxidoreductase

Molecular Function: dihydrofolate reductase activity; dihydrofolic acid binding; drug binding; folic acid binding; methotrexate binding; mRNA binding; NADP binding

Biological Process: axon regeneration; dihydrofolate metabolic process; folic acid metabolic process; positive regulation of nitric-oxide synthase activity; response to methotrexate; response to nicotine; tetrahydrobiopterin biosynthetic process; tetrahydrofolate biosynthetic process; tetrahydrofolate metabolic process