Ontology highlight
ABSTRACT:
SUBMITTER: Tarazona-Santos E
PROVIDER: S-EPMC3748357 | biostudies-literature | 2013 Sep
REPOSITORIES: biostudies-literature
Tarazona-Santos Eduardo E Machado Moara M Magalhães Wagner C S WC Chen Renee R Lyon Fernanda F Burdett Laurie L Crenshaw Andrew A Fabbri Cristina C Pereira Latife L Pinto Laelia L Redondo Rodrigo A F RA Sestanovich Ben B Yeager Meredith M Chanock Stephen J SJ
Molecular biology and evolution 20130702 9
The phagocyte NADPH oxidase catalyzes the reduction of O2 to reactive oxygen species with microbicidal activity. It is composed of two membrane-spanning subunits, gp91-phox and p22-phox (encoded by CYBB and CYBA, respectively), and three cytoplasmic subunits, p40-phox, p47-phox, and p67-phox (encoded by NCF4, NCF1, and NCF2, respectively). Mutations in any of these genes can result in chronic granulomatous disease, a primary immunodeficiency characterized by recurrent infections. Using evolution ...[more]