Entrez gene ID | | 3028 |
Official gene symbol | | HSD17B10 |
Full name | | hydroxysteroid (17-beta) dehydrogenase 10 |
Aliases | | ,17b-HSD10,ABAD,CAMR,DUPXp11.22,ERAB,HADH2,HCD2,MHBD,MRPP2,MRX17,MRX31,MRXS10,SCHAD,SDR5C1, |
Gene summary | | 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 of a wide variety of fatty acids, alcohols, and steroids. The protein has been implicated in the development of Alzheimer's 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. [provided by RefSeq] |
Location | | Chromosome: X Locus: Xp11.2 |
Gene position | | 53461323 - 53458206 Map Viewer |
Gene orientation | | minus |
Gene size | | 3118 bp |
Gene sequence |
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OMIM ID | | 300256 |
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