External Ids for C7 Gene
Previous GeneCards Identifiers for C7 Gene
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. [provided by RefSeq, Nov 2016]
GeneCards Summary for C7 Gene
C7 (Complement C7) is a Protein Coding gene. Diseases associated with C7 include Complement Component 7 Deficiency and Immunodeficiency Due To A Late Component Of Complement Deficiency. Among its related pathways are Creation of C4 and C2 activators and Complement and coagulation cascades. An important paralog of this gene is C6.
UniProtKB/Swiss-Prot for C7 Gene
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.