HPD

Chr 12q24.31

4-hydroxyphenylpyruvate dioxygenase

Aliases:: 4-HPPD, 4HPPD, GLOD3, HPPD
MANE:: ENST00000289004.8

OMIM: 609695 ↗NCBI: 3242 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

HPD · P32754

v62025-08-01

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

Mean pLDDT

95.7/ 100

Very high

393 residues

Confidence breakdown

Very high(≥ 90)93%
Confident(70–90)5%
Low(50–70)0%
Very low(< 50)2%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

Tyrosinemia type 3
0.81
tyrosinemia type III
0.80
hawkinsinuria
0.76
tyrosinemia
0.60
alkaptonuria
0.32
Hypertyrosinemia
0.26
Abnormal cerebral white matter morphology
0.26
Limb dystonia
0.26
Spasticity
0.26
Global developmental delay
0.26

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

Protein function (UniProt)

4-hydroxyphenylpyruvate dioxygenase

Catalyzes the conversion of 4-hydroxyphenylpyruvic acid to homogentisic acid, one of the steps in tyrosine catabolism (PubMed:10942115, PubMed:1339442, PubMed:34047349, PubMed:37794595). In addition may act as a N6-methyltransferase that methylates adenosine residues at the N(6) position of some RNAs (PubMed:10942115)