Gene Symbol | CYBA |
Entrez Gene ID | 1535 |
Full Name | cytochrome b-245 alpha chain |
Synonyms | p22-PHOX |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3) |