GENE NAME | AKR1C4 |
CHROMOSOME | 10 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000198610 |
UNIPROT ACCESSION NUMBER | P17516 |
GO MOLECULAR FUNCTION | ['electron transfer activity', 'ketosteroid monooxygenase activity', 'chlordecone reductase activity', 'testosterone 17-beta-dehydrogenase (NADP+) activity', 'androsterone dehydrogenase activity', '17-beta-hydroxysteroid dehydrogenase (NADP+) activity', 'steroid dehydrogenase activity', 'D-threo-aldose 1-dehydrogenase activity', 'oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor', '17-beta-hydroxysteroid dehydrogenase (NAD+) activity', 'dihydrotestosterone 17-beta-dehydrogenase activity', 'bile acid transmembrane transporter activity', '5alpha-androstane-3beta,17beta-diol dehydrogenase activity', 'bile acid binding', 'alditol:NADP+ 1-oxidoreductase activity', 'retinal dehydrogenase activity', 'testosterone dehydrogenase (NAD+) activity', 'aldo-keto reductase (NADP) activity', 'androstan-3-alpha,17-beta-diol dehydrogenase activity'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | hsa00120; hsa00140; hsa01100; R-HSA-1430728; R-HSA-162582; R-HSA-192105; R-HSA-193368; R-HSA-193775; R-HSA-193807; R-HSA-194068; R-HSA-196854; R-HSA-2187338; R-HSA-372790; R-HSA-388396; R-HSA-418594; R-HSA-556833; R-HSA-6806667; R-HSA-8957322; R-HSA-975634; hsa00120; hsa00140; hsa01100; R-HSA-1430728; R-HSA-162582; R-HSA-192105; R-HSA-193368; R-HSA-193775; R-HSA-193807; R-HSA-194068; R-HSA-196854; R-HSA-2187338; R-HSA-372790; R-HSA-388396; R-HSA-418594; R-HSA-556833; R-HSA-6806667; R-HSA-8957322; R-HSA-975634 |
3 combinations linked to AKR1C4 | OLI1535; OLI1543; OLI1563 |
3 variants linked to AKR1C4 | AKR1C4:c.826C>T, p.Arg276Trp; AKR1C4:c.589C>T, p.Leu197Phe; AKR1C4:c.227G>C, p.Arg76Thr |
2 diseases linked to AKR1C4 | 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development |