Aliases for C8B Gene
External Ids for C8B Gene
Previous GeneCards Identifiers for C8B Gene
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]
GeneCards Summary for C8B Gene
C8B (Complement C8 Beta Chain) is a Protein Coding gene. Diseases associated with C8B include Complement Component 8 Deficiency, Type Ii 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. Gene Ontology (GO) annotations related to this gene include protein complex binding. An important paralog of this gene is C8A.
UniProtKB/Swiss-Prot for C8B 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.