GENE NAME | POR |
CHROMOSOME | 7 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000127948 |
UNIPROT ACCESSION NUMBER | P16435 |
GO MOLECULAR FUNCTION | ['NADPH-hemoprotein reductase activity', 'nitric oxide dioxygenase activity', 'hydrolase activity', 'enzyme binding', 'oxidoreductase activity', 'NADP binding', 'flavin adenine dinucleotide binding', 'electron transfer activity', 'protein binding', 'cytochrome-b5 reductase activity, acting on NAD(P)H', 'iron-cytochrome-c reductase activity', 'FMN binding'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-1430728; R-HSA-211859; R-HSA-211897; R-HSA-211945; R-HSA-1430728; R-HSA-211859; R-HSA-211897; R-HSA-211945 |
7 combinations linked to POR | OLI997; OLI573; OLI338; OLI1571; OLI1526; OLI1748; OLI1002 |
7 variants linked to POR | POR:c.1798C>T, p.Arg600Trp; POR:c.1264T>G, p.Trp422Gly; POR:c.1876G>A, p.Gly626Ser; POR:c.357G>C, p.Glu119Gln; POR:c.976T>C, p.Tyr326His; POR:c.683C>T, p.Pro228Leu; POR:c.1679C>T, p.Thr560Met |
5 diseases linked to POR | 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development; Isolated Klippel-Feil syndrome; Androgen insensitivity syndrome; Disorder of sex development |