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Article

CYBB, an NADPH-oxidase gene: restricted diversity in humans and evidence for differential long-term purifying selection on transmembrane and cytosolic domains.

Human mutation - 1 May 2008

Tarazona-Santos Eduardo, Bernig Toralf, Burdett Laurie, Magalhaes Wagner C S, Fabbri Cristina, Liao Jason, Redondo Rodrigo A F, Welch Robert, Yeager Meredith, Chanock Stephen J

Abstract excerpt

CYBB encodes the gp91-phox protein of the phagocytic NADPH oxidase; the innate immunity-related enzymatic complex responsible for the respiratory burst. Mutations in CYBB can cause chronic granulomatous disease (CGD), a primary immunodeficiency characterized by ineffective microbicidal activity, for which over 150 family-specific mutations have been described. It is also plausible that common SNPs in CYBB alter...

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Source

Identifiers

PMID: 18278805
DOI: 10.1002/humu.20667

Genes

CYBB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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CYBB, an NADPH-oxidase gene: restricted diversity in humans and evidence for differential long-term purifying selection on transmembrane and cytosolic domains.PMID 18278805Read ↗

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