C9 ist ein Gen, das durch das Symbol C9 kodiert wird. Es ist auch bekannt als Complement component C9. C9 hat eine Masse von 63.17kDa, eine Aminosäurelänge von 559, und ist an folgenden Krankheiten beteiligt: Complement component 9 deficiency; Macular degeneration, age-related, 15.
Wir bieten 6 antikörper gegen C9, aufgewachsen in Kaninchen, Maus und Ziege, welche geeignet sind für WB and ELISA mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells (PubMed:9634479, PubMed:9212048, PubMed:26841934). C9 is the pore-forming subunit of the MAC (PubMed:4055801, PubMed:26841934, PubMed:30111885).
Entrez Zusammenfassung
This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency.
Gewebespezifität
Plasma (at protein level).
Rolle bei Krankheiten
Complement component 9 deficiency: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Some patients may develop dermatomyositis.
Macular degeneration, age-related, 15: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
Sequenzähnlichkeiten
Belongs to the complement C6/C7/C8/C9 family.
Posttranslationale Modifikation
Thrombin cleaves factor C9 to produce C9a and C9b.
Zellort
Secreted. Target cell membrane.
Secreted as soluble monomer. Oligomerizes at target membranes, forming a pre-pore. A conformation change then leads to the formation of a 100 Angstrom diameter pore.
