Cytochrome P450 Reductase (CPR)

POR; CYPOR; P450R; P450(Cytochrome)Oxidoreductase; NADPH--cytochrome P450 reductase

SPN	T469
HGNC	9208
MGI	97744
PubMed	2127933
RGD	68335
UniProt	P16435
Wiki	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

Reference

"Quantification of cytochrome P450 reductase gene expression in human tissues."
Arch. Biochem. Biophys. 294:168-172(1992) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of human chromosome 7."
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Structural and functional analysis of NADPH-cytochrome P-450 reductase from human liver: complete sequence of human enzyme and NADPH-binding sites."
Biochemistry 28:8639-8645(1989) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Crystal structure of the FMN-binding domain of human cytochrome P450 reductase at 1.93 A resolution."
Protein Sci. 8:298-306(1999) [PubMed] [Europe PMC] [Abstract]

"Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome."
Am. J. Med. Genet. A 128:333-339(2004) [PubMed] [Europe PMC] [Abstract]

"Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients."
J. Clin. Endocrinol. Metab. 90:414-426(2005) [PubMed] [Europe PMC] [Abstract]

"Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study."
Lancet 363:2128-2135(2004) [PubMed] [Europe PMC] [Abstract]

"Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome."
Nat. Genet. 36:228-230(2004) [PubMed] [Europe PMC] [Abstract]