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Gene Review

HSD17B3  -  hydroxysteroid (17-beta) dehydrogenase 3

Homo sapiens

Synonyms: 17-beta-HSD 3, 17-beta-hydroxysteroid dehydrogenase type 3, EDH17B3, SDR12C2, Testicular 17-beta-hydroxysteroid dehydrogenase, ...
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Disease relevance of HSD17B3


Psychiatry related information on HSD17B3

  • The fact that all genetic males with 17 beta-HSD3 or 5 alpha-R2 deficiency do not change gender role behavior indicates that other factors are also important determinants of this process [4].

High impact information on HSD17B3


Chemical compound and disease context of HSD17B3


Biological context of HSD17B3


Anatomical context of HSD17B3


Associations of HSD17B3 with chemical compounds


Other interactions of HSD17B3

  • ER alpha-null follicles also exhibited increased testosterone synthesis due to ectopic expression of hydroxysteroid (17beta) dehydrogenase type 3 (HSD17B3), a testis-specific androgenic enzyme [13].
  • 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) [10].
  • The 17 beta-HSD3 gene is mutated in male pseudohermaphrodites with the genetic disease 17 beta-HSD deficiency [14].
  • 46,XY individuals with either of two autosomal recessive mutations [17 beta-hydroxysteroid dehydrogenase 3 (17 beta-HSD3) deficiency or steroid 5 alpha-reductase 2 (5 alpha-R2) deficiency] have a female phenotype at birth and are raised as females but frequently change gender role behavior to male after the expected time of puberty [4].

Analytical, diagnostic and therapeutic context of HSD17B3


  1. Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3). Moghrabi, N., Hughes, I.A., Dunaif, A., Andersson, S. J. Clin. Endocrinol. Metab. (1998) [Pubmed]
  2. Association of the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian men. Margiotti, K., Kim, E., Pearce, C.L., Spera, E., Novelli, G., Reichardt, J.K. Prostate (2002) [Pubmed]
  3. The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred. Can, S., Zhu, Y.S., Cai, L.Q., Ling, Q., Katz, M.D., Akgun, S., Shackleton, C.H., Imperato-McGinley, J. J. Clin. Endocrinol. Metab. (1998) [Pubmed]
  4. Androgens, androgen receptors, and male gender role behavior. Wilson, J.D. Hormones and behavior. (2001) [Pubmed]
  5. Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. Geissler, W.M., Davis, D.L., Wu, L., Bradshaw, K.D., Patel, S., Mendonca, B.B., Elliston, K.O., Wilson, J.D., Russell, D.W., Andersson, S. Nat. Genet. (1994) [Pubmed]
  6. Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. Lindqvist, A., Hughes, I.A., Andersson, S. J. Clin. Endocrinol. Metab. (2001) [Pubmed]
  7. 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. Boehmer, A.L., Brinkmann, A.O., Sandkuijl, L.A., Halley, D.J., Niermeijer, M.F., Andersson, S., de Jong, F.H., Kayserili, H., de Vroede, M.A., Otten, B.J., Rouwé, C.W., Mendonça, B.B., Rodrigues, C., Bode, H.H., de Ruiter, P.E., Delemarre-van de Waal, H.A., Drop, S.L. J. Clin. Endocrinol. Metab. (1999) [Pubmed]
  8. Natural potent androgens: lessons from human genetic models. Zhu, Y.S., Katz, M.D., Imperato-McGinley, J. Baillieres Clin. Endocrinol. Metab. (1998) [Pubmed]
  9. A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females. Rösler, A., Silverstein, S., Abeliovich, D. J. Clin. Endocrinol. Metab. (1996) [Pubmed]
  10. 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]
  11. Molecular expression of 17 beta hydroxysteroid dehydrogenase types in relation to their activity in intact human prostate cancer cells. Carruba, G., Adamski, J., Calabrò, M., Miceli, M.D., Cataliotti, A., Bellavia, V., Lo Bue, A., Polito, L., Castagnetta, L.A. Mol. Cell. Endocrinol. (1997) [Pubmed]
  12. Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis. Richter-Unruh, A., Korsch, E., Hiort, O., Holterhus, P.M., Themmen, A.P., Wudy, S.A. Eur. J. Endocrinol. (2005) [Pubmed]
  13. Estrogen receptor-alpha mediates an intraovarian negative feedback loop on thecal cell steroidogenesis via modulation of Cyp17a1 (cytochrome P450, steroid 17alpha-hydroxylase/17,20 lyase) expression. Taniguchi, F., Couse, J.F., Rodriguez, K.F., Emmen, J.M., Poirier, D., Korach, K.S. FASEB J. (2007) [Pubmed]
  14. The molecular biology of androgenic 17 beta-hydroxysteroid dehydrogenases. Andersson, S., Geissler, W.M., Patel, S., Wu, L. J. Steroid Biochem. Mol. Biol. (1995) [Pubmed]
  15. Human ovarian expression of 17 beta-hydroxysteroid dehydrogenase types 1, 2, and 3. Zhang, Y., Word, R.A., Fesmire, S., Carr, B.R., Rainey, W.E. J. Clin. Endocrinol. Metab. (1996) [Pubmed]
  16. Porcine testicular 17 beta-hydroxysteroid dehydrogenase: affinity chromatography with dye-ligand agarose and demonstration of multiple forms of the enzyme. Inano, H., Ohba, H., Tamaoki, B.I. J. Steroid Biochem. (1981) [Pubmed]
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