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HSD17B10 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

HSD17B10 gene

The HSD17B10 gene provides instructions for the HSD10 protein, which is vital for mitochondrial function and the regulation of various hormones and neurosteroids.

Normal Function

The HSD17B10 gene provides instructions for making the HSD10 protein, which is located within mitochondria. It serves several critical functions:

  • Mitochondrial Protein Synthesis: HSD10 forms a complex with TRMT10C to modify transfer RNAs (tRNAs), making them stable. It also interacts with PRORP to form mitochondrial RNase P (mtRNase P), which processes precursor RNA into functional tRNA. This is essential for energy production.
  • Substance Processing: It helps break down the amino acid isoleucine and a group of fats called branched-chain fatty acids.
  • Hormone Regulation: HSD10 inactivates the potent estrogen 17β-estradiol and generates the androgen dihydrotestosterone, helping maintain hormonal balance.
  • Neurosteroid Regulation: It inactivates neurosteroids like allopregnanolone, which interact with receptors that prevent the brain from being overloaded with signals.

Health Conditions Related to Genetic Changes

HSD10 disease

More than 10 HSD17B10 mutations cause HSD10 disease, characterized by intellectual disability, impaired speech and movement, and cardiomyopathy. It affects males more severely than females.

  • Mechanism: A shortage or impaired function of HSD10 disrupts mtRNase P, leading to a reduction in functional tRNA. This decreases mitochondrial protein synthesis and energy production, particularly affecting the brain, eyes, and heart.
  • Mutation Example: The Arg130Cys (R130C) mutation results in a nonfunctional protein that is quickly broken down by the cell.

Other Disorders

  • MRXS10: A form of X-linked intellectual disability caused by a specific mutation (605C>A) that reduces the production of the HSD10 protein.
  • Duplications: Small duplications of genetic material including HSD17B10 lead to increased HSD10 protein production, which may affect neurosteroid regulation and contribute to intellectual disability.

Other Names for This Gene

  • 17-beta-hydroxysteroid dehydrogenase type 10
  • 17β-HSD10
  • 2-methyl-3-hydroxybutyryl-CoA dehydrogenase
  • 3-hydroxy-2-methylbutyryl-CoA dehydrogenase
  • 3-hydroxyacyl-CoA dehydrogenase II
  • ABAD
  • amyloid-beta peptide binding alcohol dehydrogenase
  • CAMR
  • ERAB
  • HADH2
  • HCD2
  • HSD10
  • hydroxysteroid (17-beta) dehydrogenase 10
  • MHBD
  • MRPP2
  • SCHAD
  • SDR5C1
  • short chain 3-hydroxyacyl-CoA dehydrogenase
  • short chain dehydrogenase/reductase family 5C, member 1
  • short chain type dehydrogenase/reductase XH98G2
  • type 10 17b-HSD
  • type 10 17beta-hydroxysteroid dehydrogenase

Frequently Asked Questions

The severity difference is largely due to the gene's location on the X chromosome. Males have only one X chromosome, so a single harmful mutation results in a complete lack of functional HSD10 protein in affected tissues. Females have two X chromosomes; even if one carries a mutation, the other often produces enough protein to partially compensate, leading to milder symptoms or a later onset of disease.
Caregivers should closely monitor for developmental delays in speech and motor skills, such as difficulty walking or holding objects. Additionally, because the condition can affect the heart, any signs of fatigue during minimal exertion, shortness of breath, or swelling in the legs or abdomen should be reported immediately to a pediatric cardiologist for evaluation of potential cardiomyopathy.
Yes, prenatal diagnosis is possible if a specific mutation is already known in the family. This is typically done through chorionic villus sampling (CVS) or amniocentesis to analyze fetal DNA. It is important to note that standard prenatal screening tests do not detect this condition; targeted genetic testing is required based on family history or carrier status.
HSD10 is critical for mitochondrial energy production within brain cells. When the protein is deficient, mitochondria cannot produce sufficient energy, leading to neuronal stress and death. Furthermore, HSD10 regulates neurosteroids like allopregnanolone, which modulate neural signaling. A disruption in this balance can impair cognitive development and result in the intellectual disability and speech impairments seen in HSD10 disease.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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