17-β-Hydroxysteroid dehydrogenase X (HSD10) also known as 3-hydroxyacyl-CoA dehydrogenase type-2 is a mitochondrial enzyme that in humans is encoded by the HSD17B10 (hydroxysteroid (17β) dehydrogenase 10) gene.

Mar 30, 2025 · HSD17B10 (Hydroxysteroid 17-Beta Dehydrogenase 10) is a Protein Coding gene. Diseases associated with HSD17B10 include Hsd10 Mitochondrial Disease and Syndromic X-Linked Intellectual Disability Type 10. Among its related pathways are Leucine, isoleucine and valine metabolism and tRNA processing.

The HSD17B10 gene provides instructions for making a protein called HSD10. This protein is located within mitochondria, the energy-producing centers inside cells, where it has several different functions. The HSD10 protein is important for the production (synthesis) of …

17beta-Hydroxysteroid dehydrogenase type 10 is a multifunctional, homotetrameric, mitochondrial protein encoded by the HSD17B10 gene at Xp 11.2. This protein, 17beta-HSD10, is overexpressed in brain cells of Alzheimer's disease (AD) patients.

The HSD17B10 gene encodes 17-beta-hydroxysteroid dehydrogenase X (17-beta-HSD10; EC 1.1.1.178), a member of the short-chain dehydrogenase/reductase superfamily. It is a multifunctional mitochondrial enzyme that acts on a wide spectrum of substrates, including neuroactive steroids, isoleucine, and fatty acids, with a preference for short-chain ...

Jul 23, 2020 · 17-beta-hydroxysteroid dehydrogenase 10 (HSD17B10) plays an important role in mitochondrial fatty acid metabolism and is also involved in mitochondrial tRNA maturation. HSD17B10 missense...

Mar 7, 2025 · Pathogenic HSD17B10 gene variants cause HSD10 mitochondrial disease (HSD10 MD), which results in a wide spectrum of symptoms ranging from mild to severe. Typical symptoms include intellectual disability, choreoathetosis, cardiomyopathy, neurodegeneration, and abnormal behavior.

Feb 4, 2010 · The disease‐causing gene is HSD17B10 and encodes 17β‐hydroxysteroid dehydrogenase type 10 (HSD10), a protein also implicated in the pathogenesis of Alzheimer's disease. Here we show that clinical symptoms in patients are not correlated with residual enzymatic activity of mutated HSD10.

Synonym (s): 17b-HSD10, AB-binding alcohol dehydrogenase, ABAD, CAMR, ERAB, MHBD, MRPP2, SDR5C1, mitochondrial RNase P subunit 2, short chain dehydrogenase/reductase family 5C, member 1, type 10 17b-HSD, type 10 17beta-hydroxysteroid dehydrogenase.

Nov 30, 2011 · Mutations in the HSD17B10 gene have been reported in 19 families. The classical infantile form of what is best named HSD10 disease is characterized by a period of more or less normal development in the first 6-18 months of life.