DHFR Chromosome 5
Dihydrofolate reductase
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What This Gene Does
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]
Gene Info
Gene Group
Dihydrofolate reductase family
Locus Type
gene with protein product
Location
5q14.1
Ensembl
ENSG00000228716
Associated Conditions (1)
Constitutional megaloblastic anemia with severe neurologic disease
Key Variants
RS1359361476
Conflicting classifications of pathogenicity
Health Risk
RS121913223
Pathogenic
Constitutional megaloblastic anemia with severe neurologic disease, Constitutional megaloblastic anemia with severe neurologic disease
Health Risk
RS387906619
Pathogenic
Constitutional megaloblastic anemia with severe neurologic disease, Constitutional megaloblastic anemia with severe neurologic disease
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1359361476 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS121913223 | Health Risk | Pathogenic | Constitutional megaloblastic anemia with severe neurologic disease, Constitutional megaloblastic anemia with severe neurologic disease |
| RS387906619 | Health Risk | Pathogenic | Constitutional megaloblastic anemia with severe neurologic disease, Constitutional megaloblastic anemia with severe neurologic disease |