Aliases for CYBA Gene
External Ids for CYBA Gene
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]
GeneCards Summary for CYBA Gene
CYBA (Cytochrome B-245, Alpha Polypeptide) is a Protein Coding gene. Diseases associated with CYBA include chronic granulomatous disease, autosomal, due to deficiency of cyba and chronic granulomatous disease. Among its related pathways are Disease and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include protein heterodimerization activity and heme binding.
UniProtKB/Swiss-Prot for CYBA Gene
Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide.