Article

Complete POR ablation in human adrenal cells reveals steroidogenic rerouting and variant-dependent loss of cytochrome P450 support

2026-07-28

Abstract excerpt

<title>Abstract</title> <p>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 P...

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Literature Corpus work: 6b372130-f976-5047-aee5-f2461075739b
DOI: 10.21203/rs.3.rs-10469945/v1

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