p22phox deficiency

Gene Information

Names

HUGO name: CYBA

Alias(es):

  • cytochrome b-245, alpha polypeptide
  • Cytochrome b-245 light chain
  • p22 phagocyte B-cytochrome
  • Neutrophil cytochrome B, 22 kDa polypeptide
  • p22-phox
  • p22phox
  • Cytochrome B(558) alpha chain
  • Cytochrome b558 alpha-subunit
  • Superoxide- generating NADPH oxidase light chain subunit

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

Critical component of the membrane-bound oxidase of phagocytes that generates superoxide.

Subunit:

Composed of a heavy chain (β) and a light chain (α).

Miscellaneous:

The heme prosthetic group could be coordinated with residues of the light chain, the heavy chain, or both, and it is possible that more than one heme is present per cytochrome B-245.

Other features

Iron (heme axial ligand) binding site: 93

    Other related resourses:

    Expression

    Expression pattern for human

    Tissue Expression (%) Clones
    brain, miningioma 17.86 1:709
    blood, lymphocyte 11.18 10:11328
    B-cells 6.89 9:16533
    mixed 5.67 27:60341
    leukocyte 5.64 4:8982
    osteoarthritic cartilage 4.22 1:2999
    tonsil, enriched for germinal center B-cells 4.16 12:36522
    aorta 3.70 3:10275
    colon 3.54 24:85835
    human retina 3.14 1:4036

    Animal models

    Mouse

    Fly

    C. elegans