DHFRL1
dhfrl1
Description
dhfrl1 is a gene that encodes the enzyme dihydrofolate reductase (DHFR). DHFR is an essential enzyme in the folate metabolic pathway, which is responsible for synthesizing nucleotides, which are the building blocks of DNA and RNA. DHFR reduces dihydrofolate to tetrahydrofolate, which is then used in the synthesis of thymidylate, a precursor to DNA.
Associated Diseases
Mutations in the dhfrl1 gene have been associated with several diseases, including:
- Methotrexate resistance: Methotrexate is a chemotherapeutic drug that targets DHFR. Mutations in dhfrl1 can confer resistance to methotrexate, making it less effective in treating cancer.
- Congenital folate deficiency: Congenital folate deficiency is a rare autosomal recessive disorder caused by mutations in dhfrl1. It leads to a deficiency of folate, which can result in developmental abnormalities, anemia, and impaired immune function.
Did you Know ?
- Mutations in dhfrl1 have been found in up to 30% of patients with methotrexate-resistant acute lymphoblastic leukemia.
