Exploring Novel Variants of the Cytochrome P450 Reductase Gene (<i>POR</i>) from the Genome Aggregation Database by Integrating Bioinformatic Tools and Functional Assays

Exploring Novel Variants of the Cytochrome P450 Reductase Gene (<i>POR</i>) from the Genome Aggregation Database by Integrating Bioinformatic Tools and Functional Assays

Cytochrome P450 oxidoreductase (POR) is an essential redox partner for steroid and drug-metabolizing cytochromes P450 located in the endoplasmic reticulum. Mutations in <i>POR</i> lead to metabolic disorders, including congenital adrenal hyperplasia, and affect the metabolism of steroids...

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Bibliographic Details
Main Authors: Maria Natalia Rojas Velazquez, Søren Therkelsen, Amit V. Pandey
Format: Article
Language:English
Published: MDPI AG 2023-11-01
Series:Biomolecules
Subjects:
cytochrome P450 oxidoreductase
POR
gnomAD
CAH
drug metabolism
steroid hormones
Online Access:https://www.mdpi.com/2218-273X/13/12/1728

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