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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HSD17B4
hydroxysteroid 17-beta dehydrogenase 4
Chromosome 5 · 5q23.1
NCBI Gene: 3295Ensembl: ENSG00000133835.18HGNC: HGNC:5213UniProt: A0A0S2Z4J1
210PubMed Papers
22Diseases
0Drugs
266Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
very long-chain fatty-acyl-CoA metabolic processperoxisomeestradiol 17-beta-dehydrogenase [NAD(P)+] activitymedium-chain fatty-acyl-CoA metabolic processd-bifunctional protein deficiencyPerrault syndrome 1Perrault syndromegenetic disorder
✦AI Summary

HSD17B4 is a bifunctional peroxisomal enzyme catalyzing two critical steps in fatty acid β-oxidation: hydration of 2-enoyl-CoA to 3-hydroxyacyl-CoA and subsequent dehydrogenation to 3-ketoacyl-CoA 1. The 80 kDa protein contains distinct functional domains: an N-terminal 32 kDa fragment performs dehydrogenase reactions on both steroids and acyl-CoA substrates, the central region (amino acids 324-596) catalyzes 2-enoyl-CoA hydratase activity, and the C-terminus facilitates lipid transfer between membranes 1. HSD17B4 processes straight-chain, branched-chain, and bile acid substrates, with highest expression in liver and kidney 1. Disease relevance includes HSD17B4 deficiency causing fatal Zellweger syndrome (D-bifunctional protein deficiency) 1 and mutations linked to syndromic primary ovarian insufficiency 2. Recent evidence demonstrates HSD17B4 deficiency impairs primary ciliogenesis, a ciliopathy-like phenotype rescuable by acetyl-CoA supplementation 3. In hepatocellular carcinoma, HSD17B4 regulates docosahexaenoic acid biosynthesis and ferroptosis sensitivity 4, while in prostate cancer, post-translational acetylation at K669 regulates HSD17B4 stability and cancer cell proliferation 5. These findings position HSD17B4 as both a metabolic enzyme critical for peroxisomal function and an emerging cancer therapeutic target.

Sources cited
1
HSD17B4 is a bifunctional enzyme with N-terminal dehydrogenase activity, central hydratase activity, and C-terminal lipid transfer capability; catalyzes two reactions in peroxisomal β-oxidation; highest expression in liver and kidney; mutations cause Zellweger syndrome
PMID: 10343282
2
HSD17B4 mutations are linked to syndromic primary ovarian insufficiency and implicated in metabolism function
PMID: 34794894
3
HSD17B4 deficiency impairs primary ciliogenesis and alters cilia-mediated signaling; acetyl-CoA elevation rescues ciliary defects; acetate administration restores motor function and cilia formation in HSD17B4-knockout mice
PMID: 40102401
4
HSD17B4 regulates docosahexaenoic acid biosynthesis through peroxisomal β-oxidation; HSD17B4 downregulation in hepatocellular carcinoma suppresses ferroptosis and contributes to drug resistance
PMID: 40058099
5
HSD17B4 expression is increased in prostate cancer; K669 acetylation regulates HSD17B4 protein stability via chaperone-mediated autophagy; SIRT3 and CREBBP regulate HSD17B4 acetylation and cancer progression
PMID: 32678070
6
HSD17B4 is a multifunctional enzyme with catalytic activity on acyl thioesters; participates in peroxisomal β-oxidation and intermediary metabolism; HSD17B4 deficiency is an inborn error of metabolism
PMID: 30508570
7
HSD17B4 polymorphisms, methylation, and protein acetylation influence expression and function; HSD17B4 is a potential therapeutic target and prognostic biomarker in various cancers
PMID: 40684154
Disease Associationsⓘ22
d-bifunctional protein deficiencyOpen Targets
0.83Strong
Perrault syndrome 1Open Targets
0.77Strong
Perrault syndromeOpen Targets
0.72Strong
genetic disorderOpen Targets
0.49Moderate
hearing lossOpen Targets
0.37Weak
Perrault syndrome 2Open Targets
0.37Weak
DNA methylationOpen Targets
0.31Weak
neurodegenerative diseaseOpen Targets
0.29Weak
Abnormality of the nervous systemOpen Targets
0.27Weak
Rare genetic deafnessOpen Targets
0.27Weak
placenta praeviaOpen Targets
0.26Weak
alcohol drinkingOpen Targets
0.25Weak
acute laryngitisOpen Targets
0.23Weak
tracheitisOpen Targets
0.22Weak
type 2 diabetes mellitusOpen Targets
0.19Weak
femur fractureOpen Targets
0.18Weak
IrritabilityOpen Targets
0.17Weak
isolated cerebellar hypoplasia/agenesisOpen Targets
0.15Weak
asthmaOpen Targets
0.12Weak
portal hypertensionOpen Targets
0.10Weak
D-bifunctional protein deficiencyUniProt
Perrault syndrome 1UniProt
Pathogenic Variants266
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr)Pathogenic
Perrault syndrome 1|Bifunctional peroxisomal enzyme deficiency|Rare genetic deafness|Perrault syndrome;Bifunctional peroxisomal enzyme deficiency|not provided|Bifunctional peroxisomal enzyme deficiency;Perrault syndrome 1
★★☆☆2026→ Residue 516
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer)Pathogenic
not provided|Bifunctional peroxisomal enzyme deficiency|Perrault syndrome 1;Bifunctional peroxisomal enzyme deficiency|Bifunctional peroxisomal enzyme deficiency;Perrault syndrome|HSD17B4-related disorder
★★☆☆2026→ Residue 312
NM_000414.4(HSD17B4):c.1233dup (p.Glu412fs)Pathogenic
Bifunctional peroxisomal enzyme deficiency;Perrault syndrome|Bifunctional peroxisomal enzyme deficiency
★★☆☆2026→ Residue 412
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)Pathogenic
Bifunctional peroxisomal enzyme deficiency|not provided|Perrault syndrome 1;Bifunctional peroxisomal enzyme deficiency|Perrault syndrome;Bifunctional peroxisomal enzyme deficiency|not specified
★★☆☆2026→ Residue 457
NM_000414.4(HSD17B4):c.819G>T (p.Trp273Cys)Pathogenic
Bifunctional peroxisomal enzyme deficiency;Perrault syndrome|Bifunctional peroxisomal enzyme deficiency
★★☆☆2025→ Residue 273
NM_000414.4(HSD17B4):c.1635dup (p.Gln546fs)Pathogenic
Bifunctional peroxisomal enzyme deficiency|Bifunctional peroxisomal enzyme deficiency;Perrault syndrome
★★☆☆2025→ Residue 546
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter)Pathogenic
Perrault syndrome 1|Bifunctional peroxisomal enzyme deficiency;Perrault syndrome|Bifunctional peroxisomal enzyme deficiency|not provided|Perrault syndrome|Perrault syndrome 1;Bifunctional peroxisomal enzyme deficiency
★★☆☆2025→ Residue 568
NM_000414.4(HSD17B4):c.280+2T>CPathogenic
Perrault syndrome;Bifunctional peroxisomal enzyme deficiency|not provided|Bifunctional peroxisomal enzyme deficiency
★★☆☆2025
NM_000414.4(HSD17B4):c.788del (p.Pro263fs)Pathogenic
Bifunctional peroxisomal enzyme deficiency
★★☆☆2025→ Residue 263
NM_000414.4(HSD17B4):c.1369A>G (p.Asn457Asp)Pathogenic
Bifunctional peroxisomal enzyme deficiency|Bifunctional peroxisomal enzyme deficiency;Perrault syndrome
★★☆☆2025→ Residue 457
NM_000414.4(HSD17B4):c.350A>T (p.Asp117Val)Pathogenic
Bifunctional peroxisomal enzyme deficiency
★★☆☆2025→ Residue 117
NM_000414.4(HSD17B4):c.2207T>A (p.Leu736His)Likely pathogenic
Bifunctional peroxisomal enzyme deficiency|Perrault syndrome 1
★★☆☆2025→ Residue 736
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter)Pathogenic
Bifunctional peroxisomal enzyme deficiency|Perrault syndrome;Bifunctional peroxisomal enzyme deficiency|Inborn genetic diseases|Perrault syndrome 1;Bifunctional peroxisomal enzyme deficiency
★★☆☆2025→ Residue 23
NM_000414.4(HSD17B4):c.1216C>T (p.His406Tyr)Likely pathogenic
not provided|Perrault syndrome;Bifunctional peroxisomal enzyme deficiency
★★☆☆2025→ Residue 406
NM_000414.4(HSD17B4):c.1210-1G>APathogenic
Bifunctional peroxisomal enzyme deficiency|Bifunctional peroxisomal enzyme deficiency;Perrault syndrome|not provided
★★☆☆2025
NM_000414.4(HSD17B4):c.1117del (p.Cys373fs)Pathogenic
Bifunctional peroxisomal enzyme deficiency;Perrault syndrome|Bifunctional peroxisomal enzyme deficiency
★★☆☆2025→ Residue 373
NM_000414.4(HSD17B4):c.1115C>T (p.Ser372Phe)Likely pathogenic
Bifunctional peroxisomal enzyme deficiency;Perrault syndrome|Perrault syndrome 1
★★☆☆2025→ Residue 372
NM_000414.4(HSD17B4):c.627del (p.Val210fs)Pathogenic
Bifunctional peroxisomal enzyme deficiency;Perrault syndrome|Bifunctional peroxisomal enzyme deficiency
★★☆☆2025→ Residue 210
NM_000414.4(HSD17B4):c.1262-1G>ALikely pathogenic
Bifunctional peroxisomal enzyme deficiency;Perrault syndrome|Bifunctional peroxisomal enzyme deficiency;Perrault syndrome 1
★★☆☆2025
NM_000414.4(HSD17B4):c.1717_1718del (p.Leu573fs)Pathogenic
Bifunctional peroxisomal enzyme deficiency|Perrault syndrome;Bifunctional peroxisomal enzyme deficiency|Perrault syndrome 1;Bifunctional peroxisomal enzyme deficiency
★★☆☆2025→ Residue 573
View on ClinVar ↗
Related Genes
PEX12Protein interaction100%CRATProtein interaction100%DHRS11Protein interaction100%ECHS1Protein interaction99%HADHAProtein interaction99%HADHBProtein interaction99%
Tissue Expression6 tissues
Liver
100%
Heart
45%
Brain
35%
Lung
35%
Ovary
20%
Bone Marrow
18%
Gene Interaction Network
Click a node to explore
HSD17B4PEX12CRATDHRS11ECHS1HADHAHADHB
PROTEIN STRUCTURE
Preparing viewer…
PDB8AF3 · 1.52 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.85LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.55 [0.36–0.85]
RankingsWhere HSD17B4 stands among ~20K protein-coding genes
  • #1,987of 20,598
    Most Researched210 · top 10%
  • #239of 5,498
    Most Pathogenic Variants266 · top 5%
  • #7,433of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedHSD17B4
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Genetics of ovarian insufficiency and defects of folliculogenesis.
PMID: 34794894
Best Pract Res Clin Endocrinol Metab · 2022
1.00
2
Unique multifunctional HSD17B4 gene product: 17beta-hydroxysteroid dehydrogenase 4 and D-3-hydroxyacyl-coenzyme A dehydrogenase/hydratase involved in Zellweger syndrome.
PMID: 10343282
J Mol Endocrinol · 1999
0.90
3
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
PMID: 27290639
J Transl Med · 2016
0.80
4
HSD17B4 deficiency causes dysregulation of primary cilia and is alleviated by acetyl-CoA.
PMID: 40102401
Nat Commun · 2025
0.70
5
Gamma-tocotrienol Inhibits Proliferation and Growth of HSD17B4 Overexpressing HepG2 Liver Cancer Cells.
PMID: 38934283
Curr Cancer Drug Targets · 2025
0.64