Dihydrofolate Reductase

Alternative Names

  • DHFR
  • Dihydrofolate Reductase Pseudogenes, Included
  • DHFR Pseudogenes, Included
Back to search Result
OMIM Number

126060

NCBI Gene ID

1719

Uniprot ID

P00374

Length

28,758 bases

No. of Exons

6

No. of isoforms

2

Protein Name

Dihydrofolate reductase

Molecular Mass

21453 Da

Amino Acid Count

187

Genomic Location

chr5:80,626,226-80,654,983

Gene Map Locus
5q14.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000791.4:c.86+59_86+60insACCTGGGCGGGACGCGCCAEgyptNC_000005.10:g.80654344_80654345insTGGCGCGTCCCGCCCAGGTBenignRisk factorDystonia, Dopa-Responsive, Due to Sepiapterin Reductase DeficiencyNG_023304.1:g.5637_5638insACCTGGGCGGGACGCGCCA; NM_000791.4:c.86+59_86+60insACCTGGGCGGGACGCGCCA; NP_000782.1:p.?70991108157590
© CAGS 2025. All rights reserved.