P450 oxidoreductase deficiency: a new disorder of steroidogenesis with multiple clinical manifestations.
Combined partial deficiency of 17alpha-hydroxylase and 21-hydroxylase is well-described, but patients' genes for these enzymes lack mutations. Recent work has identified mutations in the gene for P450 oxidoreductase (POR) in such patients. POR-deficient individuals have a broad range of disorders, from infants with congenital malformations to women with the polycysic ovary syndrome. POR transfers electrons to all microsomal P450 enzymes: its deficiency affects steroidogenesis, drug metabolism and other processes.
Miller
Walter L
WL
Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143-0978, USA. wlmlab@itsa.ucsf.edu
D000818:Animals; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics*; D009154:Mutation; D009251:NADPH-Ferrihemoprotein Reductase / Q000172:deficiency* / Q000235:genetics; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics; D013255:Steroid 21-Hydroxylase / Q000235:genetics; D013256:Steroids / Q000096:biosynthesis*; D013329:Structure-Activity Relationship
D017468:Receptors, Fibroblast Growth Factor; D013256:Steroids; D013255:Steroid 21-Hydroxylase; D013254:Steroid 17-alpha-Hydroxylase; D009251:NADPH-Ferrihemoprotein Reductase; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2