AlphaFold predicted structure
DHFR · P00374
Mean pLDDT
96.1/ 100
Very high
187 residues
Confidence breakdown
- Very high(≥ 90)96%
- Confident(70–90)3%
- Low(50–70)1%
- Very low(< 50)1%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
DHFR
Chr 5q14.1dihydrofolate reductase
- Aliases:
- DHFR1
- MANE:
- ENST00000439211.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Cerebral folate deficiency
BIALLELIC, autosomal or pseudoautosomalCytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalNeurotransmitter disorders
BIALLELIC, autosomal or pseudoautosomalRare anaemia
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
constitutional megaloblastic anemia with severe neurologic disease
0.79rheumatoid arthritis
0.62non-small cell lung carcinoma
0.62acute lymphoblastic leukemia
0.61psoriasis
0.60breast cancer
0.59mesothelioma
0.58juvenile idiopathic arthritis
0.58malignant pleural mesothelioma
0.56hereditary neoplastic syndrome
0.56
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Dihydrofolate reductase
Catalyzes the reduction of 7,8-dihydrofolate (DHF) to 5,6,7,8-tetrahydrofolate in a NADPH-dependent manner (PubMed:12096917, PubMed:15039552, PubMed:17569517, PubMed:19196009, PubMed:19478082, PubMed:21876184, PubMed:9719595). Key enzyme in folate metabolism. Contributes to the nuclear and mitochondrial de novo thymidylate biosynthesis pathway (PubMed:21876188, PubMed:22235121). Catalyzes an essential reaction for de novo glycine and purine synthesis, and for DNA precursor synthesis. Binds its own mRNA and that of DHFR2
Diseases associated with DHFR
Curated MONDO disease pages that list DHFR among their top associated genes.