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 | OLI1528; OLI1535; OLI1572; OLI1554; OLI1557 |
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 |