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 | OLI1531; OLI1519; OLI1521; OLI1541; OLI1562 |
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 |