HSD17B10

Chr XXLD

hydroxysteroid 17-beta dehydrogenase 10

Also known as: 17b-HSD10, ABAD, CAMR, DUPXp11.22, ERAB, HADH2, HCD2, HSD10MD

NCBI Gene: 3028ENSG00000072506UniProt: Q99714OMIM: 300256

The protein functions as a mitochondrial dehydrogenase that catalyzes fatty acid beta-oxidation, branched-chain amino acid catabolism, and steroid metabolism, and is essential for mitochondrial structural and functional integrity. Mutations cause HSD10 mitochondrial disease with X-linked dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI = 0.94, LOEUF = 0.34), reflecting its essential role in cellular metabolism.

OMIMResearchSummary from RefSeq, OMIM, UniProt
XLDLOEUF 0.341 OMIM phenotype
Clinical Summary— HSD17B10
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Gene-Disease Validity (ClinGen)
HSD10 mitochondrial disease · XLDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.94). One damaged copy is likely sufficient to cause disease.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.34LOEUF
pLI 0.936
Z-score 2.74
OE 0.00 (0.00–0.34)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.59Z-score
OE missense 0.31 (0.24–0.41)
35 obs / 112.4 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.00 (0.00–0.34)
0≤0.351.4
Missense OE0.31 (0.24–0.41)
0≤0.61.4
Synonymous OE0.92
0≤1.21.6
LoF obs/exp: 0 / 8.7Missense obs/exp: 35 / 112.4Syn Z: 0.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HSD17B10 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Infantile Neurodegeneration Results from Mutants of 17beta-Hydroxysteroid Dehydrogenase Type 10 Rather Than Abeta-Binding Alcohol Dehydrogenase
He XY et al.·Int J Mol Sci
2023
Novel Mutation in the HSD17B10 Gene Accompanied by Dysmorphic Findings in Female Patients.
Ciki K et al.·Mol Syndromol
2024Cohort
Systematic analysis of potential targets of the curcumin analog pentagamavunon-1 (PGV-1) in overcoming resistance of glioblastoma cells to bevacizumab
Hermawan A et al.·Saudi Pharm J
2021
Exercise improves choroid plexus epithelial cells metabolism to prevent glial cell-associated neurodegeneration
Chen Y et al.·Front Pharmacol
2022
A Case of 17beta-Hydroxysteroid Dehydrogenase Type 10 (HSD10) Disease Caused by a Novel Variant Presenting With Rapidly Progressive Cardiomyopathy Triggered by Viral Infection.
Kubo R et al.·Cureus
2025
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Hepatic micropeptide modulates mitochondrial RNA processing machinery in hepatocellular carcinoma.
Zhu L et al.·Mol Cell
2025
A novel c.59 C > T variant of the HSD17B10 gene as a possible cause of the neonatal form of HSD10 mitochondrial disease with hepatic dysfunction: a case report and review of the literature.
Jiang T et al.·Orphanet J Rare Dis
2025Review
17β-Hydroxysteroid dehydrogenases and neurosteroid metabolism in the central nervous system.
He XY et al.·Mol Cell Endocrinol
2019Review
Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1.
Wang Q et al.·BMC Med Genomics
2020Case report
Estrogen-related genes for thyroid cancer prognosis, immune infiltration, staging, and drug sensitivity.
Zhang L et al.·BMC Cancer
2023
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients