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Gene Information   Gene Symbol HSD17B13   Aliases HMFN0376, NIIL497, SCDR9, SDR16C3   Entrez Gene ID 345275   Gene Name Hydroxysteroid 17-beta dehydrogenase 13   Chromosomal Location 4q22.1   HGNC ID HGNC:18685   e!Ensembl Gene ENSG00000170509 Transcript ENST00000302219, ENST00000328546   Protein ENSP00000305438, ENSP00000333300 Gene Ontology (GO) Show/Hide all(4 ) GO ID Ontology Function Evidence Reference GO:0046889 Biological process Positive regulation of lipid biosynthetic process IDA 25028495 GO:0005811 Cellular component Lipid droplet IBA 21873635 GO:0005811 Cellular component Lipid droplet IDA 25028495 GO:0016229 Molecular function Steroid dehydrogenase activity IBA 21873635 Protein Information   Protein Name 17-beta-hydroxysteroid dehydrogenase 13, 17-beta hydroxysteroid dehydrogenase, 17-beta-HSD 13, short chain dehydrogenase/reductase family 16C member 3, short-chain dehydrogenase/reductase 9   Function   UniProt Q7Z5P4   Pfam Pfam Accession Pfam ID PF00106 adh_short Pathways   Reactome     Lipid particle organization Interactions   STRING MINT IntAct ENSP00000471894 P81172     View interactions       Associated Diseases Show/Hide all(2 ) Disease group Disease Name References Digestive System Diseases Liver Diseases 29562163 Endocrine System Diseases PCOS 18467089 References     Show/Hide all(2) PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion 18467089  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.  12957669  Androgen receptor(AR),SHBG  Hirsutism      Related    Comparing hirsute patients, type 2 17 beta-HSD expression was higher in treated PCOS

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