Biology:HSD17B3
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
17β-Hydroxysteroid dehydrogenase 3 (17β-HSD3) is an enzyme that in humans is encoded by the HSD17B3 gene and is involved in androgen steroidogenesis.[1][2][3]
Function
This isoform of 17β-HSD is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in impaired virilization of genetically male infants, formerly termed male pseudohermaphroditism.[4][3]
See also
References
- ↑ "Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3". Nature Genetics 7 (1): 34–9. May 1994. doi:10.1038/ng0594-34. PMID 8075637.
- ↑ "The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative". Chemico-Biological Interactions 178 (1–3): 94–8. March 2009. doi:10.1016/j.cbi.2008.10.040. PMID 19027726. Bibcode: 2009CBI...178...94P.
- ↑ 3.0 3.1 "Entrez Gene: HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=3293.
- ↑ "Testosterone 17-beta-dehydrogenase deficiency - Conditions - GTR - NCBI" (in en). https://www.ncbi.nlm.nih.gov/gtr/conditions/C0268296/.
Further reading
- "Male pseudohermaphroditism with gynaecomastia due to testicular 17-ketosteroid reductase deficiency". Clinical Endocrinology 7 (6): 443–52. December 1977. doi:10.1111/j.1365-2265.1977.tb01336.x. PMID 598011.
- "The nature of the defect in familial male pseudohermaphroditism in Arabs of Gaza". The Journal of Clinical Endocrinology and Metabolism 68 (2): 477–85. February 1989. doi:10.1210/jcem-68-2-477. PMID 2918056.
- "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 of Steroid Biochemistry 19 (1B): 663–74. July 1983. doi:10.1016/0022-4731(83)90233-9. PMID 6310248.
- "Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency". The Journal of Clinical Endocrinology and Metabolism 81 (1): 130–6. January 1996. doi:10.1210/jcem.81.1.8550739. PMID 8550739. https://epub.ub.uni-muenchen.de/15944/.
- "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". The Journal of Clinical Endocrinology and Metabolism 81 (5): 1827–31. May 1996. doi:10.1210/jcem.81.5.8626842. PMID 8626842.
- "The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred". The Journal of Clinical Endocrinology and Metabolism 83 (2): 560–9. February 1998. doi:10.1210/jcem.83.2.4535. PMID 9467575.
- "Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3)". The Journal of Clinical Endocrinology and Metabolism 83 (8): 2855–60. August 1998. doi:10.1210/jcem.83.8.5052. PMID 9709959.
- "A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism". European Journal of Endocrinology 139 (3): 330–3. September 1998. doi:10.1530/eje.0.1390330. PMID 9758445.
- "Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency". The Journal of Clinical Endocrinology and Metabolism 86 (2): 921–3. February 2001. doi:10.1210/jcem.86.2.7172. PMID 11158067.
- "Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls". Clinical Endocrinology 67 (1): 20–8. July 2007. doi:10.1111/j.1365-2265.2007.02829.x. PMID 17466011.
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