Summary
Performance
Immunogen
Application
Background
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. [provided by RefSeq, Feb 2009],disease:Defects in C9 are a cause of component C9 deficiency (C9D) [MIM:120940]. Patients with C9D suffer from recurrent bacterial infections, predominantly from Neisseria meningitidis.,function:C9 is the final component of the complement system to be added in the assembly of the membrane attack complex. It is able to enter lipid bilayers, forming transmembrane channels.,online information:C9 mutation db,PTM:Thrombin cleaves factor C9 to produce C9a and C9b.,similarity:Belongs to the complement C6/C7/C8/C9 family.,similarity:Contains 1 EGF-like domain.,similarity:Contains 1 LDL-receptor class A domain.,similarity:Contains 1 MACPF domain.,similarity:Contains 1 TSP type-1 domain.,
Research Area
Complement and coagulation cascades;Prion diseases;Systemic lupus erythematosus;
