X-linked chronic granulomatous disease

Gene Information

Names

HUGO name: CYBB

Alias(es):

  • CGD
  • GP91-PHOX
  • NOX2
  • cytochrome b-245, beta polypeptide
  • Cytochrome B-245 heavy chain
  • P22 phagocyte B-cytochrome
  • Neutrophil cytochrome B, 91 kDa polypeptide
  • CGD91-PHOX
  • Heme binding membrane glycoprotein GP91PHOX
  • Cytochrome B(558) beta chain
  • Superoxide-generating NADPH oxidase heavy 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. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H+ currents of resting phagocytes. It participates in the regulation of cellular PH and is blocked by zinc.

Subunit:

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

Subcellular location:

Integral membrane protein

Post-translational modification:

Glycosylated

Cofactor:

FAD (probable)

Structures (PDB)

Domains

Cytoplasmic domain: 1-7

    Extracellular domain: 29-47

      Cytoplasmic domain: 69-101

        Extracellular domain: 123-168

          Cytoplasmic domain: 190-199

            Extracellular domain: 221-260

              Cytoplasmic domain: 282-569

                Other features

                FAD nucleotide phosphate-binding region: 337-343

                  Heme binding site: 100

                    Heme binding site: 114

                      Heme binding site: 208

                        Heme binding site: 221

                          Other related resourses:

                          Expression

                          Expression pattern for human

                          Tissue Expression (%) Clones
                          subchondral bone 15.79 1:1332
                          kidney, pooled 11.37 4:7404
                          whole blood 8.60 1:2445
                          leukocyte 7.03 3:8982
                          tonsil, enriched for germinal center B-cells 5.76 10:36522
                          placenta human 8 week 5.21 1:4035
                          ovary (pool of 3) 4.80 1:4380
                          lymph 4.25 13:64395
                          germ cell, pooled 4.11 7:35870
                          pituitary 3.55 1:5926

                          Animal models

                          Mouse

                          C. elegans