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, ...
- 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)
- 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)
- 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)
- Androgens, androgen receptors, and male gender role behavior. Wilson, J.D. Hormones and behavior. (2001)
- 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)
- Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. Lindqvist, A., Hughes, I.A., Andersson, S. J. Clin. Endocrinol. Metab. (2001)
- 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)
- Natural potent androgens: lessons from human genetic models. Zhu, Y.S., Katz, M.D., Imperato-McGinley, J. Baillieres Clin. Endocrinol. Metab. (1998)
- 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)
- 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)
- 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)
- 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)
- 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)
- The molecular biology of androgenic 17 beta-hydroxysteroid dehydrogenases. Andersson, S., Geissler, W.M., Patel, S., Wu, L. J. Steroid Biochem. Mol. Biol. (1995)
- 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)
- 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)