Cytochrome P450 Reductase (CPR)

By Southern blot analysis of DNA isolated from a panel of 8 independent human-rodent somatic cell hybrids, Shephard et al. (1989) determined that cytochrome P450 reductase is encoded by a single gene located on 7pter-q22. By in situ hybridization to metaphase chromosomes, they refined the localization to 7q11.2.

In 4 unrelated patients with disordered steroidogenesis including a woman with amenorrhea and 3 children with bony features of Antley-Bixler syndrome, Fluck et al. (2004) found mutations in the POR gene. This was somewhat surprising since the affected individuals lacked apparent disorders of bile acid synthesis or drug metabolism, which also requires P450 enzymes, and knockout of POR is embryonically lethal in mice