NADPH P450 oxidoreductase: structure, function, and pathology of diseases

Pandey, Amit Vikram; Flück, Christa E (2013). NADPH P450 oxidoreductase: structure, function, and pathology of diseases. Pharmacology & therapeutics, 138(2), pp. 229-54. Amsterdam: Elsevier 10.1016/j.pharmthera.2013.01.010

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Cytochrome P450 oxidoreductase (POR) is an enzyme that is essential for multiple metabolic processes, chiefly among them are reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. Mutations in POR cause a complex set of disorders that often resemble defects in steroid metabolizing enzymes 17α-hydroxylase, 21-hydroxylase and aromatase. Since our initial reports of POR mutations in 2004, more than 200 different mutations and polymorphisms in POR gene have been identified. Several missense variations in POR have been tested for their effect on activities of multiple steroid and drug metabolizing P450 proteins. Mutations in POR may have variable effects on different P450 partner proteins depending on the location of the mutation. The POR mutations that disrupt the binding of co-factors have negative impact on all partner proteins, while mutations causing subtle structural changes may lead to altered interaction with specific partner proteins and the overall effect may be different for each partner. This review summarizes the recent discoveries related to mutations and polymorphisms in POR and discusses these mutations in the context of historical developments in the discovery and characterization of POR as an electron transfer protein. The review is focused on the structural, enzymatic and clinical implications of the mutations linked to newly identified disorders in humans, now categorized as POR deficiency.

Item Type:	Journal Article (Original Article)
Division/Institute:	04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Endocrinology/Metabolic Disorders
UniBE Contributor:	Pandey, Amit Vikram, Flück Pandey, Christa Emma
Subjects:	600 Technology > 610 Medicine & health 600 Technology > 610 Medicine & health > 615 Pharmacology & therapeutics, prescription drugs
ISSN:	0163-7258
Publisher:	Elsevier
Language:	English
Submitter:	Amit Vikram Pandey
Date Deposited:	04 Oct 2013 14:40
Last Modified:	02 Mar 2023 23:21
Publisher DOI:	10.1016/j.pharmthera.2013.01.010
PubMed ID:	23353702
Web of Science ID:	000317323000006
URI:	https://boris.unibe.ch/id/eprint/16089 (FactScience: 223664)