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MIM.124015 7q11.2

Monday 25 April 2005

P450 oxidoreductase (POR) is the obligatory flavoprotein intermediate that transfers electrons from reduced nicotinamide adenine dinucleotide phosphate (NADPH) to all microsomal cytochrome P450 enzymes.


-  POR dficiency. Germline mutations in:

  • Antley-Bixler syndrome (MIM.207410) (also associated with FGFR2 mutations)
  • isolated disordered steroidogenesis
  • congenital adrenal hyperplasia associated with apparent combined P450C17 and P450C21 deficiency (MIM.201750) with ambiguous genitalia