Entrez Summary: 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].
UniProt Summary: 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.
Pfam DomainsGO Terms
Pfam Domains
MACPF
Ldl recept a
GO Terms
membrane attack complex
complement activation, alternative pathway
cytolysis
extracellular vesicle
regulation of complement activation
regulation of humoral immune response
complement activation, classical pathway
humoral immune response mediated by circulating immunoglobulin
complement activation
immunoglobulin mediated immune response
B cell mediated immunity
lymphocyte mediated immunity
protein-containing complex binding
adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains
humoral immune response
regulation of immune effector process
adaptive immune response
activation of immune response
leukocyte mediated immunity
innate immune response
positive regulation of immune response
defense response to other organism
immune effector process
positive regulation of immune system process
regulation of immune response
response to other organism
response to external biotic stimulus
response to biotic stimulus
defense response
regulation of immune system process
immune response
extracellular region
membrane
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)