HSD17B3 (gene)

Hydroxysteroid (17-beta) dehydrogenase 3, also known as HSD17B3, is a human gene.cite web | title = Entrez Gene: HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3293| accessdate = ]

PBB_Summary
section_title =
summary_text = This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia.cite web | title = Entrez Gene: HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3293| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Ademola Akesode F, Meyer WJ, Migeon CJ |title=Male pseudohermaphroditism with gynaecomastia due to testicular 17-ketosteroid reductase deficiency. |journal=Clin. Endocrinol. (Oxf) |volume=7 |issue= 6 |pages= 443–52 |year= 1978 |pmid= 598011 |doi=
*cite journal | author=Eckstein B, Cohen S, Farkas A, Rösler A |title=The nature of the defect in familial male pseudohermaphroditism in Arabs of Gaza. |journal=J. Clin. Endocrinol. Metab. |volume=68 |issue= 2 |pages= 477–85 |year= 1989 |pmid= 2918056 |doi=
*cite journal | author=Rösler A, Kohn G |title=Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency: studies on the natural history of the defect and effect of androgens on gender role. |journal=J. Steroid Biochem. |volume=19 |issue= 1B |pages= 663–74 |year= 1983 |pmid= 6310248 |doi=
*cite journal | author=Geissler WM, Davis DL, Wu L, "et al." |title=Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. |journal=Nat. Genet. |volume=7 |issue= 1 |pages= 34–9 |year= 1994 |pmid= 8075637 |doi= 10.1038/ng0594-34
*cite journal | author=Andersson S, Geissler WM, Wu L, "et al." |title=Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. |journal=J. Clin. Endocrinol. Metab. |volume=81 |issue= 1 |pages= 130–6 |year= 1996 |pmid= 8550739 |doi=
*cite journal | author=Rösler A, Silverstein S, Abeliovich D |title=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. |journal=J. Clin. Endocrinol. Metab. |volume=81 |issue= 5 |pages= 1827–31 |year= 1996 |pmid= 8626842 |doi=
*cite journal | author=Can S, Zhu YS, Cai LQ, "et al." |title=The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred. |journal=J. Clin. Endocrinol. Metab. |volume=83 |issue= 2 |pages= 560–9 |year= 1998 |pmid= 9467575 |doi=
*cite journal | author=Moghrabi N, Hughes IA, Dunaif A, Andersson S |title=Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3). |journal=J. Clin. Endocrinol. Metab. |volume=83 |issue= 8 |pages= 2855–60 |year= 1998 |pmid= 9709959 |doi=
*cite journal | author=Bilbao JR, Loridan L, Audí L, "et al." |title=A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism. |journal=Eur. J. Endocrinol. |volume=139 |issue= 3 |pages= 330–3 |year= 1998 |pmid= 9758445 |doi=
*cite journal | author=Lindqvist A, Hughes IA, Andersson S |title=Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. |journal=J. Clin. Endocrinol. Metab. |volume=86 |issue= 2 |pages= 921–3 |year= 2001 |pmid= 11158067 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Lee YS, Kirk JM, Stanhope RG, "et al." |title=Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls. |journal=Clin. Endocrinol. (Oxf) |volume=67 |issue= 1 |pages= 20–8 |year= 2007 |pmid= 17466011 |doi= 10.1111/j.1365-2265.2007.02829.x

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