hrp0095fc3.4 | Early Life and Multisystem Endocrinology | ESPE2022
Rojas Velazquez Maria Natalia
, Noebauer Mathias
, Pandey Amit V
Cytochrome P450 oxidoreductase (POR) is the obligatory redox partner of steroid and drug-metabolizing cytochrome P450s located in the endoplasmic reticulum. Mutations in POR cause a broad range of disorders like congenital adrenal hyperplasia that may resemble bone malformations resembling Antley-Bixler syndrome. Genome sequencing studies have revealed the existence of a POR missense variant P228. We aimed to determine the detailed functional impact of POR variant P228L for it...