GENETIC ENCYCLOPEDIA
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gene: CYBA

id1535
symbolCYBA
organismHomo sapiens
full namecytochrome b-245 alpha chain
summaryCytochrome 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]
variant-disease

NM_000101.4(CYBA):c.287+1G>A AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NM_000101.4(CYBA):c.373G>A (p.Ala125Thr) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NM_000101.4(CYBA):c.203+8T>C AND not specified

NM_000101.4(CYBA):c.179A>C (p.Lys60Thr) AND not specified

NM_000101.4(CYBA):c.155T>C (p.Leu52Pro) AND not provided

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