Gene Symbol | DHFR |
Entrez Gene ID | 1719 |
Full Name | dihydrofolate reductase |
Synonyms | DHFRP1,DYR |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (3) |