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FLASH GENE
Symbol CYBA contributors: npt/ - updated : 07-05-2007
HGNC name cytochrome b-245, alpha polypeptide
HGNC id 2577
Corresponding disease
CYBA chronic granulomatous disease
Location 16q24.3      Physical location : 88.709.697 - 88.717.457
Synonym name
  • cytochrome b-558,alpha polypeptide,(22kDa, membrane bound component of the NADPH oxidase system, cypb245), p22g-phox
  • flavocytochrome b-558 alpha polypeptide
  • p22 phagocyte B-cytochrome
  • superoxide-generating NADPH oxidase light chain subunit
  • Synonym symbol(s) p22-PHOX
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 7.76 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 743 - 195 - -
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
    Lymphoid/Immunespleen   highly
     tonsils   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticneutrophil
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a proline-rich C terminus
  • at least one site for an SH3 domain
  • HOMOLOGY
    Homologene
    FAMILY
  • p22phox family
  • CATEGORY enzyme , tumor suppressor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • oxygen dependent mechanism of phagocytosis
  • reduction of oxygen to O-2 at the expense of NADPH, the O2-generated is the precursor of potent oxidants used to kill the invading microorganisms
  • encoding the small sub-unit, p22-phox protein, of the cytochrome b 558 of the NADPH oxidase that plays a crucial role in NADPH-dependent reactive oxygen species production
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism energetic
    signaling
    superoxide metabolism
    a component
  • membrane component of the NADPH oxidase system cytochromeb-245, tightly associated with CYBB (GP91-phox)
  • component of an intracellular complex made of CYBB, NCF1, NCF2, NCF4 in unstimulated endothelial cells
  • may form an active NADPH oxidase complex with NOX4 (Goettsch 2009)
  • INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
  • Fe2+
  • FAD
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CYBA
    related resource Autosomal recessive chronic granulomatous disease (CGD) deficiency of p22phox CYBAbase
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in endothelial cells (Goettsch 2009)
    Susceptibility
  • to coronary atherosclerosis
  • to non-Hodgkin lymphoma (NHL)
  • to obstructive pulmonary disease
  • Variant & Polymorphism SNP
  • significantly associated with an increased overall risk of NHL
  • -930AG+GG were significantly over-represented in chronic obstructive pulmonary disease (Vibhuti 2010)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS