Seroatlas · Human Serome Atlas

HSD17B10

3-hydroxyacyl-CoA dehydrogenase type-2

Also known as: 17b-HSD10, ABAD, CAMR, ERAB, HADH2, HCD2_HUMAN, MHBD, MRPP2, MRXS10, SDR5C1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q99714
Gene
HSD17B10
Ensembl
ENSG00000072506
Chromosome
X
Canonical length
261 aa
Protein class
Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Quaternary structure
Homotetramer

OverviewNCBI Gene

This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]

Canonical amino-acid sequenceUniProt

261 residues, UniProt reviewed canonical sequence.

>Q99714|HSD17B10
     1  MAAACRSVKG LVAVITGGAS GLGLATAERL VGQGASAVLL DLPNSGGEAQ AKKLGNNCVF
    61  APADVTSEKD VQTALALAKG KFGRVDVAVN CAGIAVASKT YNLKKGQTHT LEDFQRVLDV
   121  NLMGTFNVIR LVAGEMGQNE PDQGGQRGVI INTASVAAFE GQVGQAAYSA SKGGIVGMTL
   181  PIARDLAPIG IRVMTIAPGL FGTPLLTSLP EKVCNFLASQ VPFPSRLGDP AEYAHLVQAI
   241  IENPFLNGEV IRLDGAIRMQ P

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HSD17B10 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.26
Highest tissue expression
241 nTPM

Expression across tissuesHPA

Tissue

  • liver: 241 nTPM
  • esophagus: 105 nTPM
  • adrenal gland: 104 nTPM
  • kidney: 97 nTPM
  • heart muscle: 97 nTPM
  • skeletal muscle: 86 nTPM

Single-cell type

  • hepatocytes: 514 nCPM
  • esophageal suprabasal cells: 430 nCPM
  • esophageal basal cells: 263 nCPM
  • extravillous trophoblasts: 263 nCPM
  • esophageal apical cells: 262 nCPM
  • migrating cytotrophoblasts: 211 nCPM

Immune cell

  • myeloid DC: 177 nTPM
  • classical monocyte: 128 nTPM
  • total PBMC: 126 nTPM
  • intermediate monocyte: 125 nTPM
  • T-reg: 115 nTPM
  • naive B-cell: 111 nTPM

Brain region

  • medulla oblongata: 45 nTPM
  • cerebellum: 44 nTPM
  • thalamus: 43 nTPM
  • hypothalamus: 41 nTPM
  • white matter: 40 nTPM
  • midbrain: 40 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HSD17B10.

Disease | AllUniProt

Conditions HSD17B10 is implicated in, by any mechanism.

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 209 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • HSD10 mitochondrial disease
  • See cases
  • HSD17B10-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.34
gnomAD pLI
0.94
gnomAD missense Z
2.59
DepMap mean gene effect
-0.42
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of HSD17B10 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HSD17B10 as an antibody target. Whether an autoantibody or antibody against HSD17B10 could matter depends on whether native HSD17B10 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HSD17B10 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label HSD17B10 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/HSD17B10. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...