刊名:The Journal of Steroid Biochemistry and Molecular Biology
出版年:2017
出版时间:January 2017
年:2017
卷:165
期:part_PA
页码:38-50
全文大小:2461 K
卷排序:165
文摘
Mutations in POR cause a rare form of congenital adrenal hyperplasia called PORD. PORD has symptoms of multiple defects in steroid metabolizing enzymes. POR is obligate electron donor to all microsomal cytochrome P450 enzymes. POR mutations from patients have harmful effects on P450 activities. Effect of POR variants may be different for each redox partner and substrates.