Description
HSD17B10 gene encodes the protein 17-beta-hydroxysteroid dehydrogenase 10 that is a member of the short-chain dehydrogenase/reductase superfamily SCHAD. HSD17B10 gene product is a mitochondrial protein that is involved in lipid metabolism, fatty acid oxidation and steroid hormone metabolism. HSD17B10 protein has been implicated in the development of Alzheimers disease and mutations in the gene are the cause of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD). Furthermore, HSD17B10 may act as a direct molecular link between beta-amyloid and mitochondrial toxicity