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Article

Consequences of POR mutations and polymorphisms.

Molecular and cellular endocrinology - 10 Apr 2011

Miller Walter L, Agrawal Vishal, Sandee Duanpen, Tee Meng Kian, Huang Ningwu, Choi Ji Ha, Morrissey Kari, Giacomini Kathleen M

Abstract excerpt

P450 oxidoreductase (POR) transports electrons from NADPH to all microsomal cytochrome P450 enzymes, including steroidogenic P450c17, P450c21 and P450aro. Severe POR mutations A287P (in Europeans) and R457H (in Japanese) cause the Antley-Bixler skeletal malformation syndrome (ABS) plus impaired steroidogenesis (causing genital anomalies), but the basis of ABS is unclear. We have characterized the activities of...

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Identifiers

PMID: 21070833
DOI: 10.1016/j.mce.2010.10.022
PMCID: PMC4632974

Genes

POR

Variants

Provenance

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