Details for Gene HSD17B3

GENE NAME HSD17B3
CHROMOSOME 9
ENSEMBL ID None
ENTREZ ID ENSG00000130948
UNIPROT ACCESSION NUMBER P37058
GO MOLECULAR FUNCTION ['17-beta-hydroxysteroid dehydrogenase (NADP+) activity', 'oxidoreductase activity', 'testosterone dehydrogenase [NAD(P)] activity', 'testosterone 17-beta-dehydrogenase (NADP+) activity']
ESSENTIAL IN MOUSE None
PATHWAYS hsa00140; hsa01100; R-HSA-1430728; R-HSA-193048; R-HSA-196071; R-HSA-556833; R-HSA-75105; R-HSA-75876; R-HSA-8957322; R-HSA-8978868; hsa00140; hsa01100
5 combinations linked to HSD17B3 OLI1562; OLI1519; OLI1541; OLI1521; OLI1531
4 variants linked to HSD17B3 HSD17B3:c.679A>G, p.Thr227Ala; HSD17B3:c.641A>G, p.Glu214Gly; HSD17B3:c.139A>G, p.Met47Val; HSD17B3:c.476C>A, p.Thr159Asn
2 diseases linked to HSD17B3 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development

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