C6 Antibody – Mouse Monoclonal

This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]

C6: 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. Defects in C6 are the cause of complement component 6 deficiency (C6D). A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Belongs to the complement C6/C7/C8/C9 family.

Protein type: Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 5p13

Cellular Component: membrane attack complex; extracellular region

Molecular Function: protein binding

Biological Process: positive regulation of angiogenesis; in utero embryonic development; positive regulation of activation of membrane attack complex; cytolysis; regulation of complement activation; innate immune response; complement activation, classical pathway; complement activation

Disease: Complement Component 6 Deficiency