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Gene Review

HSD17B12  -  hydroxysteroid (17-beta) dehydrogenase 12

Homo sapiens

Synonyms: 17-beta-HSD 12, 17-beta-hydroxysteroid dehydrogenase 12, 3-ketoacyl-CoA reductase, Estradiol 17-beta-dehydrogenase 12, KAR, ...
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High impact information on HSD17B12

  • A platelet-expressed gene (HSD17B3) encoding type 3 17beta-hydroxysteroid dehydrogenase (previously characterized as a testis-specific enzyme catalyzing the final step in gonadal synthesis of testosterone) was selectively down-regulated in ET platelets, with reciprocal induction of the type 12 enzyme (HSD17B12) [1].
  • The induction of HSD17B12 in ET platelets was unassociated with a concomitant increase in androgen biosynthesis, suggesting distinct functions and/or substrate specificities of the types 3 and 12 enzymes [1].

Anatomical context of HSD17B12

  • These data provide the first evidence that distinct subtypes of steroidogenic 17beta-HSDs are functionally present in human blood platelets, and that the expression patterns of HSD17B3 and HSD17B12 are associated with an uncommon platelet disorder manifest by quantitative and qualitative platelet defects [1].


  1. Platelets express steroidogenic 17beta-hydroxysteroid dehydrogenases. Distinct profiles predict the essential thrombocythemic phenotype. Gnatenko, D.V., Cupit, L.D., Huang, E.C., Dhundale, A., Perrotta, P.L., Bahou, W.F. Thromb. Haemost. (2005) [Pubmed]
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