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 ofa wide variety of fatty acids, alcohols, and steroids. The 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). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined.
Proben:
FFPE tissue
Target-Kategorie:
Human HSD17B10
IHC0433H
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