Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for HSD17B10 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID3028
Official gene symbolHSD17B10
Full namehydroxysteroid (17-beta) dehydrogenase 10
Aliases,17b-HSD10,ABAD,CAMR,DUPXp11.22,ERAB,HADH2,HCD2,MHBD,MRPP2,MRX17,MRX31,MRXS10,SCHAD,SDR5C1,
Gene summaryThis 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]
LocationChromosome: X   Locus: Xp11.2
Gene position53461323 - 53458206  Map Viewer
Gene orientationminus
Gene size3118 bp
Gene sequence
OMIM ID300256