C7

This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency.

Full Name

complement C7

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. C7 serves as a membrane anchor.

Biological Process

Cellular sodium ion homeostasis Source: Ensembl
Complement activation Source: Reactome
Complement activation, alternative pathway Source: UniProtKB-KW
Complement activation, classical pathway Source: UniProtKB-KW
Cytolysis Source: UniProtKB-KW
Regulation of complement activation Source: Reactome

Cellular Location

Secreted

Involvement in disease

Complement component 7 deficiency (C7D): A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis.

PTM

C7 has 28 disulfide bridges.
C-, N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.