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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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HSD17B10
hydroxysteroid 17-beta dehydrogenase 10
Chromosome X Β· Xp11.22
NCBI Gene: 3028Ensembl: ENSG00000072506.15HGNC: HGNC:4800UniProt: A0A0S2Z410
243PubMed Papers
21Diseases
0Drugs
17Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
tRNA bindingRNA binding(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activityprotein homotetramerizationHSD10 mitochondrial diseaseHSD10 diseaseHSD10 disease, atypical typeneurodegenerative disease
✦AI Summary

HSD17B10 encodes a multifunctional mitochondrial protein with dual roles in metabolic and RNA processing functions. Primarily, HSD17B10 catalyzes 17-beta-hydroxysteroid dehydrogenase activity and participates in isoleucine and steroid metabolism 1. Beyond its dehydrogenase function, HSD17B10 moonlights as a non-catalytic component of mitochondrial ribonuclease P (mtRNase P), essential for tRNA 5'-end cleavage 2. As part of the MRPP1-MRPP2 subcomplex, HSD17B10 facilitates tRNA maturation by catalyzing N1-methylguanine and N1-methyladenine formation at position 9 in tRNAs and enhancing 3'-end processing efficiency 3. Lysine succinylation at position K99 maintains mtRNase P stability and HSD17B10's interaction with binding partners 3. Pathogenic HSD17B10 variants cause HSD10 mitochondrial disease, an X-linked disorder presenting across severity spectrum from neonatal to atypical forms 4. Neonatal presentations feature metabolic acidosis, hyperlactatemia, hepatic dysfunction, cardiomyopathy, and early death 5, while infantile-onset disease shows progressive neurodegeneration, retinopathy, and cardiomyopathy from 6-18 months 4. The pathogenic mechanism appears independent of dehydrogenase function but relates to compromised mtRNase P activity and subsequent mitochondrial dysfunction. HSD17B10 knockdown impairs metabolic homeostasis and elevates oxygen consumption 6. No effective treatment currently exists for HSD10 disease.

Sources cited
1
HSD17B10 is a protein subunit of human mitochondrial RNase P involved in tRNA cleavage and processing
PMID: 34489609
2
HSD17B10 lysine succinylation at K99 maintains mtRNase P stability and facilitates tRNA maturation including N1-methylation
PMID: 39038923
3
HSD17B10 encodes a mitochondrial multifunctional enzyme involved in isoleucine metabolism and neuroactive steroid metabolism; mutations cause X-linked mental retardation
PMID: 17618155
4
HSD17B10 mutations cause HSD10 disease with infantile and neonatal forms presenting with neurodegenerative disease, cardiomyopathy, and retinopathy; pathogenesis unrelated to MHBD function
PMID: 22127393
5
Neonatal form of HSD10 mitochondrial disease presents with intellectual disability, metabolic acidosis, hyperlactatemia, hepatic dysfunction, and cardiomyopathy
PMID: 40055822
6
HSD17B10 knockdown elevates oxygen consumption indicating metabolic stress
PMID: 38701776
Disease Associationsβ“˜21
HSD10 mitochondrial diseaseOpen Targets
0.83Strong
HSD10 diseaseOpen Targets
0.75Strong
HSD10 disease, atypical typeOpen Targets
0.71Strong
neurodegenerative diseaseOpen Targets
0.56Moderate
mitochondrial diseaseOpen Targets
0.37Weak
HSD10 disease, infantile typeOpen Targets
0.37Weak
HSD10 disease, neonatal typeOpen Targets
0.37Weak
Neurodevelopmental delayOpen Targets
0.34Weak
genetic disorderOpen Targets
0.33Weak
hypertensionOpen Targets
0.31Weak
lysosomal storage diseaseOpen Targets
0.27Weak
obesityOpen Targets
0.25Weak
response to statinOpen Targets
0.12Weak
neoplasmOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
IGA glomerulonephritisOpen Targets
0.02Suggestive
gliomaOpen Targets
0.02Suggestive
glioblastomaOpen Targets
0.01Suggestive
HypoglycemiaOpen Targets
0.01Suggestive
HSD10 mitochondrial diseaseUniProt
Pathogenic Variants17
NM_004493.3(HSD17B10):c.59C>T (p.Ser20Leu)Likely pathogenic
HSD10 mitochondrial disease
β˜…β˜…β˜†β˜†2024β†’ Residue 20
NM_004493.3(HSD17B10):c.388C>T (p.Arg130Cys)Pathogenic
HSD10 mitochondrial disease|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 130
NM_004493.3(HSD17B10):c.634A>G (p.Lys212Glu)Pathogenic
not provided|HSD10 mitochondrial disease
β˜…β˜…β˜†β˜†2022β†’ Residue 212
NM_004493.3(HSD17B10):c.677G>A (p.Arg226Gln)Pathogenic
not provided|HSD10 mitochondrial disease
β˜…β˜…β˜†β˜†2021β†’ Residue 226
NM_004493.3(HSD17B10):c.334del (p.Glu112fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 112
NM_004493.3(HSD17B10):c.551G>A (p.Arg184Gln)Pathogenic
HSD10 mitochondrial disease
β˜…β˜†β˜†β˜†2025β†’ Residue 184
NM_004493.3(HSD17B10):c.380A>G (p.Asn127Ser)Likely pathogenic
HSD17B10-related disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 127
NM_004493.3(HSD17B10):c.753C>G (p.Ile251Met)Likely pathogenic
HSD10 mitochondrial disease
β˜…β˜†β˜†β˜†2020β†’ Residue 251
NM_004493.3(HSD17B10):c.517G>C (p.Gly173Arg)Likely pathogenic
HSD10 mitochondrial disease
β˜…β˜†β˜†β˜†2020β†’ Residue 173
NM_004493.3(HSD17B10):c.85C>G (p.Arg29Gly)Likely pathogenic
HSD10 mitochondrial disease
β˜…β˜†β˜†β˜†2019β†’ Residue 29
NM_004493.3(HSD17B10):c.164G>A (p.Gly55Glu)Likely pathogenic
HSD10 mitochondrial disease
β˜…β˜†β˜†β˜†2019β†’ Residue 55
NM_004493.3(HSD17B10):c.592C>A (p.Pro198Thr)Likely pathogenic
HSD10 mitochondrial disease
β˜…β˜†β˜†β˜†2016β†’ Residue 198
NM_004493.3(HSD17B10):c.628C>G (p.Pro210Ala)Likely pathogenic
See cases
β˜…β˜†β˜†β˜†β†’ Residue 210
NM_004493.3(HSD17B10):c.706C>T (p.Leu236Phe)Likely pathogenic
HSD10 mitochondrial disease
β˜…β˜†β˜†β˜†β†’ Residue 236
NM_004493.3(HSD17B10):c.257A>G (p.Asp86Gly)Pathogenic
HSD10 mitochondrial disease
β˜†β˜†β˜†β˜†2010β†’ Residue 86
NM_004493.3(HSD17B10):c.574C>A (p.Arg192=)Pathogenic
HSD10 mitochondrial disease
β˜†β˜†β˜†β˜†2007β†’ Residue 192
NM_004493.3(HSD17B10):c.740A>G (p.Asn247Ser)Pathogenic
HSD10 mitochondrial disease
β˜†β˜†β˜†β˜†2005β†’ Residue 247
View on ClinVar β†—
Related Genes
PRORPProtein interaction100%ECHS1Protein interaction100%FSIP1Protein interaction98%ACAA2Protein interaction98%HUWE1Protein interaction98%HADHBProtein interaction97%
Tissue Expression6 tissues
Liver
100%
Heart
36%
Ovary
27%
Lung
24%
Brain
23%
Bone Marrow
21%
Gene Interaction Network
Click a node to explore
HSD17B10PRORPECHS1FSIP1ACAA2HUWE1HADHB
PROTEIN STRUCTURE
Preparing viewer…
PDB2O23 Β· 1.20 Γ… Β· X-ray
View on RCSB β†—
RankingsWhere HSD17B10 stands among ~20K protein-coding genes
  • #1,602of 20,598
    Most Researched243 Β· top 10%
  • #2,316of 5,498
    Most Pathogenic Variants17
Genes detectedHSD17B10
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
The mitochondrial multi-omic response to exercise training across rat tissues.
PMID: 38701776
Cell Metab Β· 2024
1.00
2
Hepatic micropeptide modulates mitochondrial RNA processing machinery in hepatocellular carcinoma.
PMID: 40513568
Mol Cell Β· 2025
0.90
3
HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.
PMID: 17618155
Mol Genet Metab Β· 2007
0.80
4
A novel c.59Β 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.
PMID: 40055822
Orphanet J Rare Dis Β· 2025
0.70
5
Structural basis of RNA processing by human mitochondrial RNase P.
PMID: 34489609
Nat Struct Mol Biol Β· 2021
0.60