DPYS

Chr 8q22.3

dihydropyrimidinase

Aliases:: DHPase
MANE:: ENST00000351513.7

OMIM: 613326 ↗NCBI: 1807 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DPYS · Q14117

v62025-08-01

Predicted Aligned Error matrix for DPYS — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

95.8/ 100

Very high

519 residues

Confidence breakdown

Very high(≥ 90)93%
Confident(70–90)3%
Low(50–70)3%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

dihydropyrimidinuria
0.79
hereditary disease
0.47
drug allergy
0.37
alcohol drinking
0.30
urolithiasis
0.29
bilirubin metabolism disease
0.29
type 2 diabetes mellitus
0.13
diabetes mellitus
0.12
Anisometropia
0.11
cerebrovascular disorder
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Dihydropyrimidinase

Catalyzes the second step of the reductive pyrimidine degradation, the reversible hydrolytic ring opening of dihydropyrimidines. Can catalyze the ring opening of 5,6-dihydrouracil to N-carbamyl-alanine and of 5,6-dihydrothymine to N-carbamyl-amino isobutyrate