Abstract
NADPH oxidase cytochrome b558 consists of two subunits, gp91-phox and p22-phox, defects of which result in chronic granulomatous disease (CGD). The nature of the interaction between these subunits has yet to be determined. Absence of p22-phox in autosomal CGD patient-derived B-cell lines results in detectable levels of an incompletely glycosylated gp91-phox precursor. We have detected this same precursor species in four cell lines from patients with the X-linked form of the disease due to mutations in gp91-phox. Such mutations should delineate regions of gp91-phox important for its biosynthesis, including stable association with p22-phox. One mutation mapped to the putative FAD-binding domain, one mapped to a potential haem-binding domain, and two involved the region encoded by exon 3.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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B-Lymphocytes / metabolism
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Binding Sites / genetics
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Cell Line
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Cytochrome b Group / biosynthesis*
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Cytochrome b Group / chemistry
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Cytochrome b Group / genetics*
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Genetic Linkage
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Granulomatous Disease, Chronic / genetics*
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Granulomatous Disease, Chronic / metabolism*
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Heme / metabolism
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Humans
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Membrane Glycoproteins / chemistry
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Membrane Glycoproteins / genetics*
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Membrane Glycoproteins / metabolism*
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Membrane Transport Proteins*
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Molecular Sequence Data
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Molecular Structure
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Mutation*
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NADPH Dehydrogenase / chemistry
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NADPH Dehydrogenase / genetics
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NADPH Dehydrogenase / metabolism
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NADPH Oxidase 2
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NADPH Oxidases*
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Phosphoproteins / chemistry
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Phosphoproteins / genetics
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Phosphoproteins / metabolism
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Protein Conformation
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Protein Precursors / chemistry
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Protein Precursors / genetics*
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Protein Precursors / metabolism*
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Sequence Homology, Amino Acid
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X Chromosome
Substances
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Cytochrome b Group
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Membrane Glycoproteins
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Membrane Transport Proteins
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Phosphoproteins
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Protein Precursors
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Heme
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cytochrome b558
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CYBB protein, human
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NADPH Oxidase 2
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NADPH Oxidases
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CYBA protein, human
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NADPH Dehydrogenase