Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells.
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Protein Aliases: cytochrome b light chain; Cytochrome b(558) alpha chain; cytochrome b(558) alpha-subunit; cytochrome b, alpha polypeptide; Cytochrome b-245 light chain; cytochrome b-245, alpha polypeptide; cytochrome b558 alpha-subunit; Cytochrome b558 subunit alpha; cytochrome beta-558; flavocytochrome b-558 alpha polypeptide; Neutrophil cytochrome b 22 kDa polypeptide; p22 phagocyte B-cytochrome; p22 phox; p22-phox; p22phox; Superoxide-generating NADPH oxidase light chain subunit
Gene Aliases: b558; CYBA; nmf333; p22-PHOX; p22phox