HSD17B3 (gene)

From Wikipedia, the free encyclopedia

Hydroxysteroid (17-beta) dehydrogenase 3

Identifiers

External IDs

OMIM: 605573 MGI: 107177 HomoloGene: 20089

Gene ontology
Molecular Function:	• estradiol 17-beta-dehydrogenase activity • oxidoreductase activity
Cellular Component:	• microsome
Biological Process:	• steroid biosynthetic process • sex determination • metabolic process • male genitalia development

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000197 (mRNA)
NP_000188 (protein)

NM_008291 (mRNA)
NP_032317 (protein)

Location

Chr 9: 98.04 - 98.1 Mb

Chr 13: 64.07 - 64.1 Mb

Pubmed search

[1]

[2]

Hydroxysteroid (17-beta) dehydrogenase 3, also known as HSD17B3, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3.

[edit] 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.