DHFR gene

dihydrofolate reductase

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Megaloblastic anemia due to dihydrofolate reductase deficiency

From UniProt:

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. [MIM:613839]

Cytogenetic Location: 5q14.1, which is the long (q) arm of chromosome 5 at position 14.1

Molecular Location: base pairs 80,626,226 to 80,654,981 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q14.1, which is the long (q) arm of chromosome 5 at position 14.1
  • DHFRP1
  • DYR