HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HPDL
4-hydroxyphenylpyruvate dioxygenase like
Chromosome 1 Β· 1p34.1
NCBI Gene: 84842Ensembl: ENSG00000186603.7HGNC: HGNC:28242UniProt: Q96IR7
17PubMed Papers
22Diseases
0Drugs
48Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
4-hydroxymandelate synthase activitymitochondrionmitochondrial matrixaromatic amino acid metabolic processneurodevelopmental disorder with progressive spasticity and brain white matter abnormalitiesspastic paraplegia 83, autosomal recessiveInherited congenital spastic tetraplegiagenetic disorder
✦AI Summary

HPDL (4-hydroxyphenylpyruvate dioxygenase like) is a mitochondrial iron-dependent dioxygenase that catalyzes the conversion of 4-hydroxyphenylpyruvate to 4-hydroxymandelate (4-HMA) as part of the coenzyme Q10 biosynthesis pathway 1. This enzyme represents a crucial step in CoQ10 headgroup synthesis, where 4-HMA serves as an intermediate for producing 4-hydroxybenzoate, the CoQ10 headgroup precursor 1. HPDL also participates in alternative leucine metabolism pathways in immune cells, contributing to Ξ²-hydroxy Ξ²-methylbutyric acid production that regulates Th17 responses via the mTORC1-HIF1Ξ± pathway 2. Biallelic HPDL variants cause severe neurodevelopmental disorders characterized by progressive spasticity, brain white matter abnormalities, developmental delay, seizures, and brain atrophy 34. These conditions result from disrupted CoQ10 synthesis leading to mitochondrial dysfunction, altered oxidative metabolism, and increased reactive oxygen species 4. Remarkably, therapeutic intervention with CoQ10 headgroup intermediates 4-HMA and 4-HB can restore CoQ10 synthesis and ameliorate disease symptoms, with both compounds enabling 90-100% survival in HPDL-deficient mice and improving neurological symptoms in human patients 5. This discovery provides a mechanistic treatment approach for HPDL-related mitochondrial encephalopathies through bypass therapy targeting the disrupted biosynthetic pathway.

Sources cited
1
HPDL catalyzes conversion of 4-hydroxyphenylpyruvate to 4-hydroxymandelate in CoQ10 biosynthesis pathway
PMID: 34471290
2
HPDL participates in alternative leucine metabolism and Th17 immune response regulation
PMID: 39085353
3
Biallelic HPDL variants cause neurodevelopmental disorders with spasticity and brain abnormalities
PMID: 35985664
4
HPDL deficiency causes mitochondrial dysfunction and altered oxidative metabolism
PMID: 40719007
5
4-HMA and 4-HB supplementation can restore CoQ10 synthesis and treat HPDL-related encephalopathy
PMID: 40634618
Disease Associationsβ“˜22
neurodevelopmental disorder with progressive spasticity and brain white matter abnormalitiesOpen Targets
0.79Strong
spastic paraplegia 83, autosomal recessiveOpen Targets
0.75Strong
Inherited congenital spastic tetraplegiaOpen Targets
0.71Strong
genetic disorderOpen Targets
0.53Moderate
spastic ataxiaOpen Targets
0.43Moderate
Spastic paraplegiaOpen Targets
0.42Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
complex neurodevelopmental disorderOpen Targets
0.37Weak
Leigh syndromeOpen Targets
0.19Weak
cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
osteoarthritisOpen Targets
0.05Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
neurodegenerative syndrome due to cerebral folate transport deficiencyOpen Targets
0.04Suggestive
MORM syndromeOpen Targets
0.03Suggestive
birdshot chorioretinopathyOpen Targets
0.03Suggestive
homocystinuria without methylmalonic aciduriaOpen Targets
0.03Suggestive
Norrie diseaseOpen Targets
0.03Suggestive
exudative vitreoretinopathy 2, X-linkedOpen Targets
0.03Suggestive
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalitiesUniProt
Spastic paraplegia 83, autosomal recessiveUniProt
Pathogenic Variants48
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp)Pathogenic
Spastic paraplegia 83, autosomal recessive|not provided|Spastic paraplegia|Spastic ataxia|Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
β˜…β˜…β˜†β˜†2025β†’ Residue 50
NM_032756.4(HPDL):c.599del (p.Gly200fs)Pathogenic
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 200
NM_032756.4(HPDL):c.3G>C (p.Met1Ile)Pathogenic
Spastic paraplegia|Inborn genetic diseases|Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_032756.4(HPDL):c.859T>C (p.Tyr287His)Pathogenic
Spastic paraplegia|Inborn genetic diseases|Spastic paraplegia 83, autosomal recessive
β˜…β˜…β˜†β˜†2025β†’ Residue 287
NM_032756.4(HPDL):c.788C>T (p.Thr263Met)Likely pathogenic
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities|Spastic paraplegia
β˜…β˜…β˜†β˜†2025β†’ Residue 263
NM_032756.4(HPDL):c.94C>T (p.Gln32Ter)Pathogenic
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 32
NM_032756.4(HPDL):c.389_713del (p.Leu130fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 130
NM_032756.4(HPDL):c.232G>A (p.Ala78Thr)Likely pathogenic
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities|Spastic paraplegia|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 78
NM_032756.4(HPDL):c.1024C>T (p.Gln342Ter)Likely pathogenic
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
β˜…β˜†β˜†β˜†2025β†’ Residue 342
NM_032756.4(HPDL):c.1066G>C (p.Ala356Pro)Likely pathogenic
Spastic paraplegia 83, autosomal recessive;Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
β˜…β˜†β˜†β˜†2024β†’ Residue 356
NM_032756.4(HPDL):c.1036del (p.Ala346fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 346
NM_032756.4(HPDL):c.862T>C (p.Tyr288His)Likely pathogenic
Spastic paraplegia 83, autosomal recessive
β˜…β˜†β˜†β˜†2024β†’ Residue 288
NM_032756.4(HPDL):c.835C>T (p.Gln279Ter)Pathogenic
Spastic paraplegia|Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
β˜…β˜†β˜†β˜†2023β†’ Residue 279
NM_032756.4(HPDL):c.852del (p.Ala286fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 286
NM_032756.4(HPDL):c.769_771delinsTC (p.Gln257fs)Likely pathogenic
Spastic paraplegia|Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
β˜…β˜†β˜†β˜†2022β†’ Residue 257
NM_032756.4(HPDL):c.163_164del (p.Leu55fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2022β†’ Residue 55
NM_032756.4(HPDL):c.503G>A (p.Cys168Tyr)Likely pathogenic
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities|Spastic paraplegia|not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 168
NM_032756.4(HPDL):c.759dup (p.Pro254fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2021β†’ Residue 254
NM_032756.4(HPDL):c.698_699insTGGGCCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTC (p.Leu234fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2021β†’ Residue 234
NM_032756.4(HPDL):c.529_530del (p.Leu177fs)Likely pathogenic
not provided|Spastic paraplegia
β˜…β˜†β˜†β˜†2021β†’ Residue 177
View on ClinVar β†—
Related Genes
TPH2Shared pathway100%HGDProtein interaction99%PCCBProtein interaction86%MCCC2Protein interaction86%COQ2Protein interaction86%XYLBProtein interaction79%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
69%
Ovary
18%
Lung
8%
Heart
6%
Liver
3%
Gene Interaction Network
Click a node to explore
HPDLTPH2HGDPCCBMCCC2COQ2XYLB
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96IR7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.18LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.66 [0.38–1.18]
RankingsWhere HPDL stands among ~20K protein-coding genes
  • #15,021of 20,598
    Most Researched17
  • #1,380of 5,498
    Most Pathogenic Variants48
  • #12,420of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedHPDL
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Novel lactylation-related signature to predict prognosis for pancreatic adenocarcinoma.
PMID: 38817665
World J Gastroenterol Β· 2024
1.00
2
Coenzyme Q headgroup intermediates can ameliorate a mitochondrial encephalopathy.
PMID: 40634618
Nature Β· 2025
0.90
3
HPDL Biallelic Variants in Cerebral Palsy and Childhood-Onset Hereditary Spastic Paraplegia: Human and Zebrafish Insights.
PMID: 40719007
Mov Disord Β· 2025
0.80
4
The polar oxy-metabolome reveals the 4-hydroxymandelate CoQ10 synthesis pathway.
PMID: 34471290
Nature Β· 2021
0.70
5
Inhibition of BCAT1-mediated cytosolic leucine metabolism regulates Th17 responses via the mTORC1-HIF1Ξ± pathway.
PMID: 39085353
Exp Mol Med Β· 2024
0.60