Health / Medical Topics

    POR wt Allele

    Human POR wild-type allele is located in the vicinity of 7q11.2 and is approximately 33 kb in length. This allele, which encodes NADPH--cytochrome P450 reductase protein, plays a role in the transfer of electrons directly from NADPH to all microsomal P450 enzymes. Certain allelic variants of the POR gene cause POR deficiency which, in turn, is associated with Antley-Bixler syndrome, congenital adrenal hyperplasia and disordered steroidogenesis. (NCI Thesaurus)




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