HSD17B10

Also known as 17b-HSD10, ABAD, CAMR, DUPXp11.22, ERAB, HADH2, HCD2, MHBD

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. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. Human HSD10 cDNA was cloned from the brain (NM_004493), and the resulting protein, a homotetramer, was first characterized as a short chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD). Active sites of this enzyme can accommodate different su

In the Vinony graph

Within Vinony's link graph, HSD17B10 is referenced by 8 other articles, and connects out to PubMed, X chromosome and Beta amyloid.

It is catalogued under the topic Genes on human chromosome X.

Its subject is documented across 4 Wikipedia language editions.

Gene data

HSD17B10

Name: hydroxysteroid 17-beta dehydrogenase 10
Type: protein-coding
Chromosome: X
Position: 53,431,258–53,434,403 (−)
Aliases: 17b-HSD10, ABAD, CAMR, DUPXp11.22, ERAB, HADH2, HCD2, HSD10MD, MHBD, MRPP2
Ensembl: ENSG00000072506
RefSeq RNA: NM_001037811.2, NM_004493.3
RefSeq protein: NP_001032900.1, NP_004484.1

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 and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014].