Disease	Score

Substances	Interaction	Organism	Category

Substances	Interaction	Organism	Category

     From NCBI Gene: Megaloblastic anemia due to dihydrofolate reductase deficiencyFrom UniProt: Megaloblastic 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. [MIM:613839]

     From NCBI Gene: 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] From UniProt: Key enzyme in folate metabolism. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Catalyzes an essential reaction for de novo glycine and purine synthesis, and for DNA precursor synthesis. Binds its own mRNA and that of DHFRL1.

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

The following transcription factors affect gene expression:

• Pax-3
• C/EBPalpha
• Sp1
• IRF-1
• E2F-1
• E2F-4

Tissue specificity:

Widely expressed in fetal and adult tissues, including throughout the fetal and adult brains and whole blood. Expression is higher in the adult brain than in the fetal brain.

Molecular Function:

• Mrna Binding
• Dihydrofolate Reductase Activity
• Folic Acid Binding
• Drug Binding
• Folate Reductase Activity
• Methotrexate Binding
• Nadph Binding

Biological Processes:

• G1/S Transition Of Mitotic Cell Cycle
• Regulation Of Transcription Involved In G1/S Transition Of Mitotic Cell Cycle
• Glycine Biosynthetic Process
• Tetrahydrobiopterin Biosynthetic Process
• One-Carbon Metabolic Process
• Nucleotide Biosynthetic Process
• Axon Regeneration
• Response To Methotrexate
• Dihydrofolate Metabolic Process
• Tetrahydrofolate Metabolic Process
• Tetrahydrofolate Biosynthetic Process
• Folic Acid Metabolic Process
• Positive Regulation Of Nitric-Oxide Synthase Activity
• Oxidation-Reduction Process
• Regulation Of Removal Of Superoxide Radicals

Drug Bank:

• Gentamicin
• Pralatrexate
• Pemetrexed
• Proguanil
• Pyrimethamine
• Trimethoprim
• Trimetrexate
• Methotrexate

*synonyms