Article

Complete Genomic Ablation of Cytochrome P450 Oxidoreductase Unveils Endogenous Steroidogenic Shunting and Variant Instability

2026-04-14

Abstract excerpt

Cytochrome P450 oxidoreductase (POR) is the obligate electron donor for microsomal cytochrome P450 enzymes. Recessive mutations in the POR gene cause POR deficiency (PORD), a severe metabolic disorder characterized by skeletal malformations, ambiguous genitalia, and adrenal insufficiency. Because global POR knockout is embryonically lethal in mammalian models, the mechanistic study of PORD has historically been re...

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Literature Corpus work: d744ae7d-ead4-51e6-a3c1-4a43c40fc2c2
DOI: 10.20944/preprints202604.0880.v1

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