P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms

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• 作者：Fabian Z. Burkhard¹ ; Shaheena Parween¹ ; Sameer S. Udhane¹ ; Christa E. Flü ; ck ; Amit V. Pandey ; ^{amit@pandeylab.org} ; ^{amit.pandey@dkf.unibe.ch}
• 关键词：Cytochrome P450 oxidoreductase ; P450 oxidoreductase deficiency ; PORD ; Steroid metabolism ; Antley-Bixler syndrome ; Disorders of sexual development ; CYP17A1
• 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.