Details for Gene POR

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

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