Gene
HSD17B10
hydroxysteroid 17-beta dehydrogenase 10
- HGNC 4800↗(opens in a new tab)
- Ensembl gene ENSG00000072506↗(opens in a new tab)
- NCBI Gene 3028↗(opens in a new tab)
Summary
- Cytogenetic location
- Xp11.22
- Coordinates
- Chromosome X: 53,431,261–53,434,370 (GRCh38)
- Exons
- 6 exons across 3.1 kb
- Protein
- 261 amino acids
- Also known as
- ERAB, MHBD, 17b-HSD10, ABAD, SDR5C1, MRPP2, CAMR
- Previous symbols
- HADH2, MRXS10
- MANE Select transcript
- ENST00000168216.11NM_004493.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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No Genome Test report reads HSD17B10 yet. The test sequences your whole genome, so your data includes it all the same.
How HSD17B10 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1 kb of the gene's 3.1 kb; 786 of those bases code for the protein.
How a genome test reads HSD17B10
13
positions in HSD17B10 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 3.1 kb of HSD17B10, introns included, not only the 1 kb of exons.
Traits linked to HSD17B10
The Human Phenotype Ontology lists these as features of the rare conditions HSD17B10 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Intellectual disability
- Abnormality of movement
- Behavioral abnormality
- Epilepsy
- Global developmental delay
- Worsening neurological symptoms
- Degeneration of cerebrum
- Delayed speech and language development
Show 22 more traits
- Loss of developmental milestones
- Moderate global developmental delay
- Ongoing loss of nerve cells
- Abnormal basal ganglia morphology
- Absent speech development
- Choreoathetosis
- Difficulty articulating speech
- Diffuse cerebral atrophy
- Dystonia
- Elevated brain lactate level by MRS
- Frontotemporal cerebral atrophy
- Hyperactive movements
- Incoordination
- Intellectual disability, severe
- Loss of ability to walk
- Nonprogressive encephalopathy
- Paroxysmal bursts of laughter
- Restlessness
- Spoken word recognition deficit
- Aggressive behavior
- Agitation
- Decrease in size of the outer layer of the brain due to loss of brain cells
Laboratory abnormality
- Elevated circulating tiglylglycine concentration
- Abnormal circulating enzyme concentration or activity
- Abnormal concentration of acylcarnitine in the urine
- Higher than normal levels of lactate in blood
- Increased CSF lactate
- Increased lactate in body
- Metabolic acidosis
- Low blood sugar
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). HSD17B10 gene: hydroxysteroid 17-beta dehydrogenase 10. Retrieved 17 October 2026, from https://dantelabs.com/genes/hsd17b10
Dante Labs. HSD17B10 gene: hydroxysteroid 17-beta dehydrogenase 10 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/hsd17b10
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