C8B Antibody – Rabbit Polyclonal

This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, which mediates cell lysis, and it initiates membrane penetration of the complex. This protein mediates the interaction of C8 with the C5b-7 membrane attack complex precursor. In humans deficiency of this protein is associated with increased risk of meningococcal infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

Function: 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.

Subunit structure: Heterotrimer of 3 chains: alpha, beta and gamma. The alpha and gamma chains are disulfide bonded. Component of the membrane attack complex (MAC). MAC assembly is initiated by protelytic cleavage of C5 into C5a and C5b. C5b binds sequentially C6, C7, C8 and multiple copies of the pore-forming subunit C9. Ref.8 Ref.12

Subcellular location: Secreted.

Post-translational modification: N-glycosylated; contains one or two bound glycans. Not O-glycosylated. Ref.1 Ref.9

Polymorphism: The sequence shown is that of allotype C8B B.

Involvement in disease: Complement component 8 deficiency, 2 (C8D2) [MIM:613789]: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis.Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

Sequence similarities: Belongs to the complement C6/C7/C8/C9 family.Contains 1 EGF-like domain.Contains 1 LDL-receptor class A domain.Contains 1 MACPF domain.Contains 2 TSP type-1 domains.