Sequence of 3BHS2_HUMAN

3beta-hydroxy-DELTA5-steroid dehydrogenase

P26439

372

42052

steroid DELTA-isomerase

P26439

372

42052

259184

Lachance Y.,Luu-The V.,Verreault H.,Dumont M.,Rheaume E.,Leblanc G.,Labrie F.

Structure of the human type II 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase (3 beta-HSD) gene: adrenal and gonadal specificity.

DNA Cell Biol.

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1991

259185

Rheaume E.,Lachance Y.,Zhao H.-F.,Breton N.,Dumont M.,de Launoit Y.,Trudel C.,Luu-The V.,Simard J.,Labrie F.

Structure and expression of a new complementary DNA encoding the almost exclusive 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase in human adrenals and gonads.

Mol. Endocrinol.

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1147-1157

1991

259186

Bechtel S.,Rosenfelder H.,Duda A.,Schmidt C.P.,Ernst U.,Wellenreuther R.,Mehrle A.,Schuster C.,Bahr A.,Bloecker H.,Heubner D.,Hoerlein A.,Michel G.,Wedler H.,Koehrer K.,Ottenwaelder B.,Poustka A.,Wiemann S.,Schupp I.

The full-ORF clone resource of the German cDNA consortium.

BMC Genomics

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399-399

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259188

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The DNA sequence and biological annotation of human chromosome 1.

Nature

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315-321

2006

259190

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

Genome Res.

14

2121-2127

2004

259191

Russell A.J.,McCartin S.,Corcao G.,Burridge S.M.,McBride M.W.,McNicol A.M.,Hawes C.S.,Mason J.I.,Sutcliffe R.G.

Variation in the expression of human 3 beta-hydroxysteroid dehydrogenase.

Endocr. Res.

21

485-494

1995

259192

Rheaume E.,Simard J.,Morel Y.,Mebarki F.,Zachmann M.,Forest M.G.,New M.I.,Labrie F.

Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene.

Nat. Genet.

1

239-245

1992

259193

Carbunaru G.,Prasad P.,Scoccia B.,Shea P.,Hopwood N.,Ziai F.,Chang Y.T.,Myers S.E.,Mason J.I.,Pang S.

The hormonal phenotype of nonclassic 3 beta-hydroxysteroid dehydrogenase (HSD3B) deficiency in hyperandrogenic females is associated with insulin-resistant polycystic ovary syndrome and is not a variant of inherited HSD3B2 deficiency.

J. Clin. Endocrinol. Metab.

89

783-794

2004

259194

Simard J.,Rheaume E.,Sanchez R.,Laflamme N.,de Launoit Y.,Luu-The V.,van Seters A.P.,Gordon R.D.,Bettendorf M.,Heinrich U.,Moshang T.,New M.I.,Labrie F.

Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.

Mol. Endocrinol.

7

716-728

1993

259195

Sanchez R.,Mebarki F.,Rheaume E.,Laflamme N.,Forest M.G.,Bey-Omar F.,David M.,Morel Y.,Labrie F.,Simard J.

Functional characterization of the novel L108W and P186L mutations detected in the type II 3 beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia.

Hum. Mol. Genet.

3

1639-1645

1994

259196

Sanchez R.,Rheaume E.,Laflamme N.,Rosenfield R.L.,Labrie F.,Simard J.

Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency.

J. Clin. Endocrinol. Metab.

78

561-567

1994

259197

Rheaume E.,Sanchez R.,Simard J.,Chang Y.T.,Wang J.,Pang S.,Labrie F.

Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency.

J. Clin. Endocrinol. Metab.

79

1012-1018

1994

259198

Mendonca B.B.,Russell A.J.,Vasconcelos-Leite M.,Arnhold I.J.,Bloise W.,Wajchenberg B.L.,Nicolau W.,Sutcliffe R.G.,Wallace A.M.

Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females.

J. Mol. Endocrinol.

12

119-122

1994

259199

Russell A.J.,Wallace A.M.,Forest M.G.,Donaldson M.D.,Edwards C.R.,Sutcliffe R.G.

Mutation in the human gene for 3 beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss.

J. Mol. Endocrinol.

12

225-237

1994

259200

Rheaume E.,Sanchez R.,Mebarki F.,Gagnon E.,Carel J.-C.,Chaussain J.-L.,Morel Y.,Labrie F.,Simard J.

Identification and characterization of the G15D mutation found in a male patient with 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency: alteration of the putative NAD-binding domain of type II 3 beta-HSD.

Biochemistry

34

2893-2900

1995

259201

Katsumata N.,Tanae A.,Yasunaga T.,Horikawa R.,Tanaka T.,Hibi I.

A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.

Hum. Mol. Genet.

4

745-746

1995

259202

Tajima T.,Fujieda K.,Nakae J.,Shinohara N.,Yoshimoto M.,Baba T.,Kinoshita E.,Igarashi Y.,Oomura T.

Molecular analysis of type II 3 beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 beta-hydroxysteroid dehydrogenase deficiency.

Hum. Mol. Genet.

4

969-971

1995

259203

Mebarki F.,Sanchez R.,Rheaume E.,Laflamme N.,Simard J.,Forest M.G.,Bey-Omar F.,David M.,Labrie F.,Morel Y.

Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene.

J. Clin. Endocrinol. Metab.

80

2127-2134

1995

259204

Nayak S.,Lee P.A.,Witchel S.F.

Variants of the type II 3beta-hydroxysteroid dehydrogenase gene in children with premature pubic hair and hyperandrogenic adolescents.

Mol. Genet. Metab.

64

184-192

1998

259205

Moisan A.M.,Ricketts M.L.,Tardy V.,Desrochers M.,Mebarki F.,Chaussain J.-L.,Cabrol S.,Raux-Demay M.C.,Forest M.G.,Sippell W.G.,Peter M.,Morel Y.,Simard J.

New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene in eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.

J. Clin. Endocrinol. Metab.

84

4410-4425

1999

259206

Marui S.,Castro M.,Latronico A.C.,Elias L.L.,Arnhold I.J.,Moreira A.C.,Mendonca B.B.

Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls.

Clin. Endocrinol. (Oxf.)

52

67-75

2000

259207

Alos N.,Moisan A.M.,Ward L.,Desrochers M.,Legault L.,Leboeuf G.,van Vliet G.,Simard J.

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.

J. Clin. Endocrinol. Metab.

85

1968-1974

2000

259208

Pang S.,Wang W.,Rich B.,David R.,Chang Y.T.,Carbunaru G.,Myers S.E.,Howie A.F.,Smillie K.J.,Mason J.I.

A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3-beta-hydroxysteroid dehydrogenase (3-beta-HSD) gene causing, respectively, nonclassic and classic 3-beta-HSD deficiency congenital adrenal hyperplasia.

J. Clin. Endocrinol. Metab.

87

2556-2563

2002

259209

Welzel M.,Wustemann N.,Simic-Schleicher G.,Dorr H.G.,Schulze E.,Shaikh G.,Clayton P.,Grotzinger J.,Holterhus P.M.,Riepe F.G.

Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia.

J. Clin. Endocrinol. Metab.

93

1418-1425

2008

259210

Rabbani B.,Mahdieh N.,Haghi Ashtiani M.T.,Setoodeh A.,Rabbani A.

In silico structural, functional and pathogenicity evaluation of a novel mutation: an overview of HSD3B2 gene mutations.

Gene

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215-221

2012

259211

Baquedano M.S.,Ciaccio M.,Marino R.,Perez Garrido N.,Ramirez P.,Maceiras M.,Turjanski A.,Defelipe L.A.,Rivarola M.A.,Belgorosky A.

A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. new insight into the structure-function relationships of 3beta-hydroxysteroid dehidrogenase type II.

J. Clin. Endocrinol. Metab.

100

0-0

2015