HSD17B3 (gene)

Hydroxysteroid (17-beta) dehydrogenase 3
Identifiers
Symbols	HSD17B3 ; EDH17B3
External IDs	Template:OMIM5 Template:MGI HomoloGene: 20089
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Hydroxysteroid (17-beta) dehydrogenase 3, also known as HSD17B3, is a human gene.

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.

Further reading

• Ademola Akesode F, Meyer WJ, Migeon CJ (1978). "Male pseudohermaphroditism with gynaecomastia due to testicular 17-ketosteroid reductase deficiency". Clin. Endocrinol. (Oxf). 7 (6): 443–52. PMID 598011.CS1 maint: Multiple names: authors list (link)
• Eckstein B, Cohen S, Farkas A, Rösler A (1989). "The nature of the defect in familial male pseudohermaphroditism in Arabs of Gaza". J. Clin. Endocrinol. Metab. 68 (2): 477–85. PMID 2918056.CS1 maint: Multiple names: authors list (link)
• Rösler A, Kohn G (1983). "Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency: studies on the natural history of the defect and effect of androgens on gender role". J. Steroid Biochem. 19 (1B): 663–74. PMID 6310248.
• Geissler WM, Davis DL, Wu L; et al. (1994). "Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3". Nat. Genet. 7 (1): 34–9. doi:10.1038/ng0594-34. PMID 8075637.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Andersson S, Geissler WM, Wu L; et al. (1996). "Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency". J. Clin. Endocrinol. Metab. 81 (1): 130–6. PMID 8550739.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rösler A, Silverstein S, Abeliovich D (1996). "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". J. Clin. Endocrinol. Metab. 81 (5): 1827–31. PMID 8626842.CS1 maint: Multiple names: authors list (link)
• Can S, Zhu YS, Cai LQ; et al. (1998). "The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred". J. Clin. Endocrinol. Metab. 83 (2): 560–9. PMID 9467575.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Moghrabi N, Hughes IA, Dunaif A, Andersson S (1998). "Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3)". J. Clin. Endocrinol. Metab. 83 (8): 2855–60. PMID 9709959.CS1 maint: Multiple names: authors list (link)
• Bilbao JR, Loridan L, Audí L; et al. (1998). "A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism". Eur. J. Endocrinol. 139 (3): 330–3. PMID 9758445.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lindqvist A, Hughes IA, Andersson S (2001). "Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency". J. Clin. Endocrinol. Metab. 86 (2): 921–3. PMID 11158067.CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lee YS, Kirk JM, Stanhope RG; et al. (2007). "Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls". Clin. Endocrinol. (Oxf). 67 (1): 20–8. doi:10.1111/j.1365-2265.2007.02829.x. PMID 17466011.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)