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POR

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.

Pathology

-  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