HSD17B6

Chr 12

hydroxysteroid 17-beta dehydrogenase 6

Also known as: HSE, RODH, SDR9C6

NCBI Gene: 8630 ENSG00000025423 UniProt: O14756

The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family. [provided by RefSeq, Aug 2013]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

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P/LP submissions

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P/LP missense

0.59

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance

LoF Constraint?

0.59LOEUF

pLI 0.348

Z-score 2.59

OE 0.23 (0.10–0.59)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.49Z-score

OE missense 0.90 (0.79–1.02)

161 obs / 179.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.23 (0.10–0.59)

0≤0.351.4

Missense OE?0.90 (0.79–1.02)

0≤0.61.4

Synonymous OE?0.90

0≤1.21.6

LoF obs/exp: 3 / 13.1Missense obs/exp: 161 / 179.5Syn Z: 0.67

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

HSD17B6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

Genomic variants and phenotypes in rare disease patients

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

Helicobacter Pylori Infection

Tailored Vs. Empirical Helicobacter Pylori Infection Treatment

NOT YET RECRUITING

NCT06200779Phase PHASE4Manuel Coelho da RochaStarted 2025-09

Clarithromycin (mutations in the 23S rRNA gene, A2134G, A2142G and A2142C mutations) and levofloxacin resistance (mutations in the gyrA gene) PCR testEmpirically H. pylori eradication treatment with bismuth quadruple therapy (Pylera®)PPI, amoxicillin 1 g and clarithromycin 500 mg, twice daily, for 10 days

Leber Congenital AmaurosisLeber Congenital Amaurosis (LCA)

Safety and Tolerability of Subretinal OPGx-RDH12-1001 for LCA-Associated Inherited Retinal Degeneration (LCA-IRD)

NOT YET RECRUITING

NCT07681778Phase PHASE1, PHASE2Opus Genetics, IncStarted 2026-09-01

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

Genomic variants and phenotypes in rare disease patients