HSD17B3

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
HSD17B3
Identifiers
Aliases HSD17B3, EDH17B3, SDR12C2, hydroxysteroid (17-beta) dehydrogenase 3, hydroxysteroid 17-beta dehydrogenase 3
External IDs MGI: 107177 HomoloGene: 20089 GeneCards: HSD17B3
Gene location (Human)
Chromosome 9 (human)
Chr. Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for HSD17B3
Genomic location for HSD17B3
Band 9q22.32 Start 96,235,306 bp[1]
End 96,302,152 bp[1]
RNA expression pattern
PBB GE HSD17B3 206985 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000197

NM_008291

RefSeq (protein)

NP_000188
NP_000188.1

NP_032317

Location (UCSC) Chr 9: 96.24 – 96.3 Mb Chr 13: 64.06 – 64.09 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

17β-Hydroxysteroid dehydrogenase 3 (17β-HSD3) is an enzyme that in humans is encoded by the HSD17B3 gene and is involved in androgen steroidogenesis.[5][6][7]

Function[edit]

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.[8][7]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000130948 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033122 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB, Elliston KO, Wilson JD, Russell DW, Andersson S (May 1994). "Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3". Nature Genetics. 7 (1): 34–9. doi:10.1038/ng0594-34. PMID 8075637. 
  6. ^ Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jörnvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U (March 2009). "The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative". Chemico-Biological Interactions. 178 (1-3): 94–8. doi:10.1016/j.cbi.2008.10.040. PMC 2896744Freely accessible. PMID 19027726. 
  7. ^ a b "Entrez Gene: HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3". 
  8. ^ "Testosterone 17-beta-dehydrogenase deficiency - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-03-17. 

Further reading[edit]

  • Ademola Akesode F, Meyer WJ, Migeon CJ (December 1977). "Male pseudohermaphroditism with gynaecomastia due to testicular 17-ketosteroid reductase deficiency". Clinical Endocrinology. 7 (6): 443–52. doi:10.1111/j.1365-2265.1977.tb01336.x. PMID 598011. 
  • Eckstein B, Cohen S, Farkas A, Rösler A (February 1989). "The nature of the defect in familial male pseudohermaphroditism in Arabs of Gaza". The Journal of Clinical Endocrinology and Metabolism. 68 (2): 477–85. doi:10.1210/jcem-68-2-477. PMID 2918056. 
  • Rösler A, Kohn G (July 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". Journal of Steroid Biochemistry. 19 (1B): 663–74. doi:10.1016/0022-4731(83)90233-9. PMID 6310248. 
  • Andersson S, Geissler WM, Wu L, Davis DL, Grumbach MM, New MI, Schwarz HP, Blethen SL, Mendonca BB, Bloise W, Witchel SF, Cutler GB, Griffin JE, Wilson JD, Russel DW (January 1996). "Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency". The Journal of Clinical Endocrinology and Metabolism. 81 (1): 130–6. doi:10.1210/jc.81.1.130. PMID 8550739. 
  • Rösler A, Silverstein S, Abeliovich D (May 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". The Journal of Clinical Endocrinology and Metabolism. 81 (5): 1827–31. doi:10.1210/jc.81.5.1827. PMID 8626842. 
  • Can S, Zhu YS, Cai LQ, Ling Q, Katz MD, Akgun S, Shackleton CH, Imperato-McGinley J (February 1998). "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. doi:10.1210/jc.83.2.560. PMID 9467575. 
  • Moghrabi N, Hughes IA, Dunaif A, Andersson S (August 1998). "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. doi:10.1210/jc.83.8.2855. PMID 9709959. 
  • Bilbao JR, Loridan L, Audí L, Gonzalo E, Castaño L (September 1998). "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. doi:10.1530/eje.0.1390330. PMID 9758445. 
  • Lindqvist A, Hughes IA, Andersson S (February 2001). "Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency". The Journal of Clinical Endocrinology and Metabolism. 86 (2): 921–3. doi:10.1210/jc.86.2.921. PMID 11158067. 
  • Lee YS, Kirk JM, Stanhope RG, Johnston DI, Harland S, Auchus RJ, Andersson S, Hughes IA (July 2007). "Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls". Clinical Endocrinology. 67 (1): 20–8. doi:10.1111/j.1365-2265.2007.02829.x. PMID 17466011.