HSD17B13

Gene Information
 
Gene Symbol
HSD17B13
 
Aliases
HMFN0376, NIIL497, SCDR9, SDR16C3
 
Entrez Gene ID
 
Gene Name
Hydroxysteroid (17-beta) dehydrogenase 13
 
Chromosomal Location
4q22.1
 
HGNC ID
 
Summary
 
GeneCards ID
 
UniGene
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein
Protein Information
 
Protein Name
17-beta-hydroxysteroid dehydrogenase 13
 
Function
 
Refseq Proteins
 
UniProt
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00106 adh_short short chain dehydrogenase
 
OMIM

Associated Diseases

Diseases References
Hirsutism 12957669
   
References
 
Primary:

In situ estrogen metabolism in proliferative endometria from untreated women with polycystic ovarian syndrome with and without endometrial hyperplasia.

Bacallao K, Leon L, Gabler F, Soto E, Romero C, Valladares L, Vega M
Institute of Maternal and Child Research, School of Medicine, University of Chile, Chile; Department of Obstetrics and Gynecology, School of Medicine, University of Chile, Clinical Hospital, Santos Dumont # 999, Santiago, Chile.
J Steroid Biochem Mol Biol. 2008 May;110(1-2):163-9. doi:
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
P450 aromatase, estrogen sulfotransferase (EST) and STS 
Steroid metabolism 
 
 
Related 
 
The ratio between the mRNA from 17beta-HSD type 1/type 2 was higher in PCOSE, whereas, a diminution in the 17beta-HSD type 2 activity was observed in PCOSE. These results indicate that the activity of enzymes related to the steroid metabolism in analyzed PCOSE differ from those found in the CE. Consequently, PCOSE may present an in situ deregulation of the steroid metabolism. 
Androgen receptor(AR),SHBG 
Hirsutism 
 
 
Related 
 
Comparing hirsute patients, type 2 17 beta-HSD expression was higher in treated PCOS 

 

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