Article

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

2023-11-09

Abstract excerpt

Cytochrome P450 oxidoreductase (POR) is an essential redox partner for steroid and drug-metabolizing cytochromes P450 located in the endoplasmic reticulum. Mutations in POR lead to metabolic disorders, including congenital adrenal hyperplasia, and affect the metabolism of steroids, drugs, and xenobiotics. In this study, we examined approximately 450 missense variants of the POR gene listed in the Genome Aggregatio...

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Literature Corpus work: 7792c36a-cdf6-5fa4-a1ce-2eb7a404f610
DOI: 10.20944/preprints202311.0653.v1

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