Gene Review:
HSD3B2 - hydroxy-delta-5-steroid dehydrogenase, 3...
Homo sapiens
Synonyms:
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2, 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II, 3-beta-HSD II, 3-beta-HSD adrenal and gonadal type, HSD3B, ...
- Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility. Chang, B.L., Zheng, S.L., Hawkins, G.A., Isaacs, S.D., Wiley, K.E., Turner, A., Carpten, J.D., Bleecker, E.R., Walsh, P.C., Trent, J.M., Meyers, D.A., Isaacs, W.B., Xu, J. Cancer Res. (2002)
- Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273 delta AA in type II 3 beta-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan/Pakistani origin. Simard, J., Rhéaume, E., Leblanc, J.F., Wallis, S.C., Joplin, G.F., Gilbey, S., Allanson, J., Mettler, G., Bettendorf, M., Heinrich, U. Hum. Mol. Genet. (1994)
- Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping. Mermejo, L.M., Elias, L.L., Marui, S., Moreira, A.C., Mendonca, B.B., de Castro, M. J. Clin. Endocrinol. Metab. (2005)
- Molecular study of the 3 beta-hydroxysteroid dehydrogenase gene type II in patients with hypospadias. Codner, E., Okuma, C., Iñiguez, G., Boric, M.A., Avila, A., Johnson, M.C., Cassorla, F.G. J. Clin. Endocrinol. Metab. (2004)
- In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development. Goto, M., Piper Hanley, K., Marcos, J., Wood, P.J., Wright, S., Postle, A.D., Cameron, I.T., Mason, J.I., Wilson, D.I., Hanley, N.A. J. Clin. Invest. (2006)
- Dinucleotide repeat polymorphisms in the HSD3B2 gene. Verreault, H., Dufort, I., Simard, J., Labrie, F., Luu-The, V. Hum. Mol. Genet. (1994)
- The orphan nuclear receptor NGFIB regulates transcription of 3beta-hydroxysteroid dehydrogenase. implications for the control of adrenal functional zonation. Bassett, M.H., Suzuki, T., Sasano, H., De Vries, C.J., Jimenez, P.T., Carr, B.R., Rainey, W.E. J. Biol. Chem. (2004)
- New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes. Moisan, A.M., Ricketts, M.L., Tardy, V., Desrochers, M., Mébarki, F., Chaussain, J.L., Cabrol, S., Raux-Demay, M.C., Forest, M.G., Sippell, W.G., Peter, M., Morel, Y., Simard, J. J. Clin. Endocrinol. Metab. (1999)
- The role of the orphan nuclear receptor, liver receptor homologue-1, in the regulation of human corpus luteum 3beta-hydroxysteroid dehydrogenase type II. Peng, N., Kim, J.W., Rainey, W.E., Carr, B.R., Attia, G.R. J. Clin. Endocrinol. Metab. (2003)
- Prominent sex steroid metabolism in human lymphocytes. Zhou, Z., Shackleton, C.H., Pahwa, S., White, P.C., Speiser, P.W. Mol. Cell. Endocrinol. (1998)
- A role for the NGFI-B family in adrenal zonation and adrenocortical disease. Bassett, M.H., White, P.C., Rainey, W.E. Endocr. Res. (2004)
- A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty. Alos, N., Moisan, A.M., Ward, L., Desrochers, M., Legault, L., Leboeuf, G., Van Vliet, G., Simard, J. J. Clin. Endocrinol. Metab. (2000)
- Genetic variation of 3 beta-hydroxysteroid dehydrogenase type II in three racial/ethnic groups: implications for prostate cancer risk. Devgan, S.A., Henderson, B.E., Yu, M.C., Shi, C.Y., Pike, M.C., Ross, R.K., Reichardt, J.K. Prostate (1997)
- Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls. Marui, S., Castro, M., Latronico, A.C., Elias, L.L., Arnhold, I.J., Moreira, A.C., Mendonca, B.B. Clin. Endocrinol. (Oxf) (2000)
- YY1 binding within the human HSD3B2 gene intron 1 is required for maximal basal promoter activity: identification of YY1 as the 3beta1-A factor. Foti, D.M., Reichardt, J.K. J. Mol. Endocrinol. (2004)
- Corticotropin-releasing hormone directly stimulates cortisol and the cortisol biosynthetic pathway in human fetal adrenal cells. Sirianni, R., Rehman, K.S., Carr, B.R., Parker, C.R., Rainey, W.E. J. Clin. Endocrinol. Metab. (2005)
- The human 3beta-hydroxysteroid dehydrogenase/Delta5-Delta4 isomerase type 2 promoter is a novel target for the immediate early orphan nuclear receptor Nur77 in steroidogenic cells. Martin, L.J., Tremblay, J.J. Endocrinology (2005)
- Genetic linkage mapping of HSD3B1 and HSD3B2 encoding human types I and II 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase close to D1S514 and the centromeric D1Z5 locus. Morissette, J., Rhéaume, E., Leblanc, J.F., Luu-The, V., Labrie, F., Simard, J. Cytogenet. Cell Genet. (1995)