HSD17B3
Identifiers
AliasesHSD17B3, EDH17B3, SDR12C2, hydroxysteroid (17-beta) dehydrogenase 3, hydroxysteroid 17-beta dehydrogenase 3
External IDsOMIM: 605573 MGI: 107177 HomoloGene: 20089 GeneCards: HSD17B3
Orthologs
SpeciesHumanMouse
Entrez

3293

15487

Ensembl

ENSG00000130948

ENSMUSG00000033122

UniProt

P37058
Q6FH62

P70385

RefSeq (mRNA)

NM_000197

NM_008291

RefSeq (protein)

NP_000188
NP_000188.1

NP_032317

Location (UCSC)Chr 9: 96.24 – 96.3 MbChr 13: 64.21 – 64.24 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

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

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000130948 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000033122 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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. S2CID 23241.
  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 2896744. PMID 19027726.
  7. 1 2 "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

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.