Details for Gene HSD17B6

GENE NAME HSD17B6
CHROMOSOME 12
ENSEMBL ID None
ENTREZ ID ENSG00000025423
UNIPROT ACCESSION NUMBER O14756
GO MOLECULAR FUNCTION ['17-beta-hydroxysteroid dehydrogenase (NADP+) activity', 'androstan-3-alpha,17-beta-diol dehydrogenase activity', '5alpha-androstane-3beta,17beta-diol dehydrogenase activity', 'testosterone 17-beta-dehydrogenase (NADP+) activity', 'testosterone dehydrogenase (NAD+) activity', '17-beta-hydroxysteroid dehydrogenase (NAD+) activity', 'NAD-retinol dehydrogenase activity', 'electron transfer activity', 'oxidoreductase activity', 'catalytic activity', 'androsterone dehydrogenase activity']
ESSENTIAL IN MOUSE None
PATHWAYS hsa00140; hsa00830; hsa01100; hsa01240; hsa00140; hsa00830; hsa01100; hsa01240; R-HSA-162582; R-HSA-2187338; R-HSA-2453902; R-HSA-372790; R-HSA-388396; R-HSA-418594
5 combinations linked to HSD17B6 OLI1535; OLI1572; OLI1557; OLI1528; OLI1554
2 variants linked to HSD17B6 HSD17B6:c.830C>T, p.Pro277Leu; HSD17B6:c.285G>T, p.Gln95His
2 diseases linked to HSD17B6 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development

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