AlphaFold predicted structure
DPYD · Q12882
Mean pLDDT
96.1/ 100
Very high
1,025 residues
Confidence breakdown
- Very high(≥ 90)95%
- Confident(70–90)4%
- Low(50–70)1%
- Very low(< 50)0%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
DPYD
Chr 1p21.3dihydropyrimidine dehydrogenase
- Aliases:
- DPD, DHPDHase
- MANE:
- ENST00000370192.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalInherited white matter disorders
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalWhite matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
dihydropyrimidine dehydrogenase deficiency
0.82gastric cancer
0.53hereditary disease
0.49gastric neoplasm
0.48Knee pain
0.47schizophrenia
0.46Wheezing
0.46gastroesophageal reflux disease
0.44intelligence
0.43alcohol drinking
0.41
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Dihydropyrimidine dehydrogenase [NADP(+)]
Involved in pyrimidine base degradation (PubMed:1512248). Catalyzes the reduction of uracil and thymine (PubMed:1512248). Also involved the degradation of the chemotherapeutic drug 5-fluorouracil (PubMed:1512248)
Diseases associated with DPYD
Curated MONDO disease pages that list DPYD among their top associated genes.