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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HSD17B6
hydroxysteroid 17-beta dehydrogenase 6
Chromosome 12 · 12q13.3
NCBI Gene: 8630Ensembl: ENSG00000025423.12HGNC: HGNC:23316UniProt: A0A219K5H4
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
androsterone dehydrogenase [NAD(P)+] activity5-alpha-androstane-3-beta,17-beta-diol dehydrogenase (NADP+) activityandrostan-3-alpha,17-beta-diol dehydrogenase (NAD+) activitybrexanolone catabolic processmicrocephalic primordial dwarfismprimordial dwarfism-immunodeficiency-lipodystrophy syndromeneurodegenerative diseasehepatocellular carcinoma
✦AI Summary

HSD17B6 is a NAD-dependent oxidoreductase with broad substrate specificity that catalyzes oxidative and reductive reactions on steroids and retinoids 1. The enzyme converts 5-alpha-androstan-3-alpha,17-beta-diol to androsterone and estradiol to estrone, demonstrating 17-beta-hydroxysteroid dehydrogenase activity 2. Beyond steroid metabolism, HSD17B6 has retinol dehydrogenase activity toward all-trans-retinol and acts on both C-19 and C-21 3-alpha-hydroxysteroids 1. Mechanism: HSD17B6 plays a novel non-enzymatic role in glucose homeostasis by binding to the SREBP/SCAP/INSIG complex and inhibiting SREBP maturation, independent of its steroid oxidase activity 1. This SREBP inhibition reduces hepatic de novo lipogenesis and improves glucose tolerance. Disease relevance: Low HSD17B6 expression correlates with poorer overall and progression-free survival in hepatocellular carcinoma patients and associates with reduced tumor-infiltrating immune cells 3. HSD17B6 polymorphisms are associated with polycystic ovary syndrome phenotypes including altered body mass index and androgen status 4. Additionally, parabens and benzophenone UV-filters inhibit HSD17B6, potentially reducing DHT synthesis through the backdoor androgen pathway 2. Clinical significance: Hepatic HSD17B6 expression improves glucose tolerance and reduces type 2 diabetes development in diet-induced obese mice 1, positioning it as a potential therapeutic target for metabolic disorders. However, HSD17B6 deletion does not affect diet-induced fatty liver disease development 5.

Sources cited
1
HSD17B6 inhibits SREBP activation through binding to SREBP/SCAP/INSIG complex, improving glucose tolerance and delaying type 2 diabetes development independently of its enzymatic steroid oxidase activity
PMID: 37330135
2
HSD17B6 catalyzes 3-alpha-oxidation in the backdoor pathway of DHT formation; parabens and benzophenone UV-filters inhibit HSD17B6 with nanomolar IC50 values, potentially reducing DHT synthesis
PMID: 39532263
3
Low HSD17B6 expression in hepatocellular carcinoma associates with poorer overall and progression-free survival and correlates with reduced tumor-infiltrating immune cells
PMID: 33495920
4
HSD17B6 polymorphism rs898611 associates with PCOS features including altered body mass index, insulin resistance markers, and reduced testosterone in PCOS patients
PMID: 17070195
5
Hepatic HSD17B6 expression is enriched in liver hepatocytes and correlates with fatty liver disease, but HSD17B6 hepatic deletion does not affect diet-induced fatty liver disease development
PMID: 39896111
6
HSD17B6 is part of the backdoor pathway for DHT synthesis; wild-type HSD17B6 sequence was identified in hypospadias patients, suggesting low involvement in male urethral development
PMID: 32732174
Disease Associationsⓘ20
microcephalic primordial dwarfismOpen Targets
0.33Weak
primordial dwarfism-immunodeficiency-lipodystrophy syndromeOpen Targets
0.33Weak
neurodegenerative diseaseOpen Targets
0.19Weak
hepatocellular carcinomaOpen Targets
0.10Weak
neoplasmOpen Targets
0.10Weak
lung adenocarcinomaOpen Targets
0.10Weak
Abnormality of the skeletal systemOpen Targets
0.10Suggestive
polycystic ovary syndromeOpen Targets
0.05Suggestive
atrial flutterOpen Targets
0.04Suggestive
lung carcinomaOpen Targets
0.04Suggestive
ovarian carcinomaOpen Targets
0.03Suggestive
Acute hepatic failureOpen Targets
0.03Suggestive
type 2 diabetes mellitusOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
obstructive sleep apneaOpen Targets
0.03Suggestive
uterine fibroidOpen Targets
0.03Suggestive
infectionOpen Targets
0.03Suggestive
fatty liver diseaseOpen Targets
0.03Suggestive
sleep apneaOpen Targets
0.03Suggestive
liver cancerOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AKR1C3Protein interaction98%LRATProtein interaction97%CYP1A1Protein interaction96%HSD17B7Protein interaction96%SRD5A3Protein interaction95%UGT2B28Protein interaction95%
Tissue Expression6 tissues
Liver
100%
Lung
1%
Brain
1%
Bone Marrow
1%
Ovary
0%
Heart
0%
Gene Interaction Network
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HSD17B6AKR1C3LRATCYP1A1HSD17B7SRD5A3UGT2B28
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O14756
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.54 [0.36–0.83]
RankingsWhere HSD17B6 stands among ~20K protein-coding genes
  • #12,364of 20,598
    Most Researched28
  • #7,072of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedHSD17B6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
HSD17B6 delays type 2 diabetes development via inhibiting SREBP activation.
PMID: 37330135
Metabolism · 2023
1.00
2
Potential antiandrogenic effects of parabens and benzophenone-type UV-filters by inhibition of 3α-hydroxysteroid dehydrogenases.
PMID: 39532263
Toxicology · 2024
0.90
3
Hydroxysteroid 17-Beta Dehydrogenase 6 Is a Prognostic Biomarker and Correlates with Immune Infiltrates in Hepatocellular Carcinoma.
PMID: 33495920
Dig Dis Sci · 2022
0.80
4
Association analysis between the polymorphisms of HSD17B5 and HSD17B6 and risk of polycystic ovary syndrome in Chinese population.
PMID: 25422294
Eur J Endocrinol · 2015
0.70
5
Polymorphisms of the HSD17B6 and HSD17B5 genes in Chinese women with polycystic ovary syndrome.
PMID: 21039282
J Womens Health (Larchmt) · 2010
0.60