Entity Details

Primary name DHFR
Entity type gene
Source Source Link

Details

PrimaryID1719
RefseqGeneNG_023304
SymbolDHFR
Namedihydrofolate reductase
Chromosome5
Location5q14.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1988-06-01
ModificationDate2021-06-13

Ontological Relatives

UniProt IDsDYR_HUMAN

GO terms

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GOName
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle
GO:0000900 translation repressor activity, mRNA regulatory element binding
GO:0003729 mRNA binding
GO:0004146 dihydrofolate reductase activity
GO:0005542 folic acid binding
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0006545 glycine biosynthetic process
GO:0006729 tetrahydrobiopterin biosynthetic process
GO:0006730 one-carbon metabolic process
GO:0008144 drug binding
GO:0017148 negative regulation of translation
GO:0031103 axon regeneration
GO:0031427 response to methotrexate
GO:0046452 dihydrofolate metabolic process
GO:0046653 tetrahydrofolate metabolic process
GO:0046654 tetrahydrofolate biosynthetic process
GO:0046655 folic acid metabolic process
GO:0050661 NADP binding
GO:0051000 positive regulation of nitric-oxide synthase activity
GO:0051870 methotrexate binding
GO:0070402 NADPH binding
GO:1990825 sequence-specific mRNA binding
GO:2000121 regulation of removal of superoxide radicals

Diseases

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Disease IDSourceNameDescription
613839 OMIMMegaloblastic 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. The disease is caused by variants affecting the gene represented in this entry.