background:
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]
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.
Subcellular Location:
Secreted.
Post-translational modifications:
N-glycosylated; contains one or two bound glycans. Not O-glycosylated.
DISEASE:
Defects in C8B are a cause of complement component 8 deficiency type 2 (C8D2) [MIM:120960]. A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis.
Similarity:
Belongs to the complement C6/C7/C8/C9 family.
Contains 1 EGF-like domain.
Contains 1 LDL-receptor class A domain.
Contains 1 MACPF domain.
Contains 2 TSP type-1 domains.
Database links:
Entrez Gene: 732 Human
Entrez Gene: 100009385 Rabbit
Omim: 120960 Human
SwissProt: P07358 Human
SwissProt: P98137 Rabbit
Unigene: 391835 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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