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]
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. S2CID 72297230.
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/jcem.81.1.8550739. 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/jcem.81.5.8626842. PMID 8626842. S2CID 46093440.
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/jcem.83.2.4535. 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/jcem.83.8.5052. 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. S2CID 26522874.
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/jcem.86.2.7172. 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. S2CID 8349020.
This article on a gene on human chromosome 9 is a stub. You can help Wikipedia by expanding it.
hsd17b3, 17β, hydroxysteroid, dehydrogenase, 17β, hsd3, enzyme, that, humans, encoded, gene, involved, androgen, steroidogenesis, identifiersaliases, edh17b3, sdr12c2, hydroxysteroid, beta, dehydrogenase, hydroxysteroid, beta, dehydrogenase, 3external, idsomim. 17b Hydroxysteroid dehydrogenase 3 17b HSD3 is an enzyme that in humans is encoded by the HSD17B3 gene and is involved in androgen steroidogenesis 5 6 7 HSD17B3IdentifiersAliasesHSD17B3 EDH17B3 SDR12C2 hydroxysteroid 17 beta dehydrogenase 3 hydroxysteroid 17 beta dehydrogenase 3External IDsOMIM 605573 MGI 107177 HomoloGene 20089 GeneCards HSD17B3Gene location Human Chr Chromosome 9 human 1 Band9q22 32Start96 235 306 bp 1 End96 302 176 bp 1 Gene location Mouse Chr Chromosome 13 mouse 2 Band13 13 B3Start64 206 080 bp 2 End64 237 044 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inright lobe of livertibial nervesubstantia nigragastric mucosaleft lobe of thyroid glandsural nervecorpus callosumright lobe of thyroid glandhippocampus properright uterine tubeTop expressed intesticlespermatocyteseminiferous tubuleright ventricleadrenal glandspermatidovarytemporal muscledigastric musclespleenMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functiontestosterone 17 beta dehydrogenase NADP activity oxidoreductase activity testosterone dehydrogenase NAD activity testosterone dehydrogenase NAD P activity Cellular componentendoplasmic reticulum membrane intracellular membrane bounded organelle endoplasmic reticulumBiological processtestosterone biosynthetic process steroid biosynthetic process lipid metabolism androgen biosynthetic process male genitalia developmentSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez329315487EnsemblENSG00000130948ENSMUSG00000033122UniProtP37058Q6FH62P70385RefSeq mRNA NM 000197NM 008291RefSeq protein NP 000188NP 000188 1NP 032317Location UCSC Chr 9 96 24 96 3 MbChr 13 64 21 64 24 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 See also 3 References 4 Further readingFunction editSee also 17b Hydroxysteroid dehydrogenase III deficiency This isoform of 17b 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 edit17b Hydroxysteroid dehydrogenaseReferences edit a b c GRCh38 Ensembl release 89 ENSG00000130948 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000033122 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine 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 S2CID 23241 Persson B Kallberg Y Bray JE Bruford E Dellaporta SL Favia AD Duarte RG Jornvall 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 Bibcode 2009CBI 178 94P doi 10 1016 j cbi 2008 10 040 PMC 2896744 PMID 19027726 a b Entrez Gene HSD17B3 hydroxysteroid 17 beta dehydrogenase 3 Testosterone 17 beta dehydrogenase deficiency Conditions GTR NCBI www ncbi nlm nih gov Retrieved 2017 03 17 Further reading editAdemola 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 S2CID 72297230 Eckstein B Cohen S Farkas A Rosler 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 Rosler 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 jcem 81 1 8550739 PMID 8550739 Rosler 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 jcem 81 5 8626842 PMID 8626842 S2CID 46093440 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 jcem 83 2 4535 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 jcem 83 8 5052 PMID 9709959 Bilbao JR Loridan L Audi L Gonzalo E Castano 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 S2CID 26522874 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 jcem 86 2 7172 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 S2CID 8349020 nbsp This article on a gene on human chromosome 9 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title HSD17B3 amp oldid 1216883405, wikipedia, wiki, book, books, library,
