Home
>
Product
>
Antibody
>
Rabbit Anti-Complement component C6 antibody
This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]
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:
All cysteine residues are assumed to be cross-linked to one another. Individual modules containing an even number of conserved cysteine residues are supposed to have disulfide linkages only within the same module.
DISEASE:
Defects in C6 are the cause of complement component 6 deficiency (C6D) [MIM:612446]. A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis.
SWISS:
P13671
Gene ID:
729
Database links:
Entrez Gene: 729 Human
Entrez Gene: 12274 Mouse
Omim: 217050 Human
SwissProt: P13671 Human
Unigene: 481992 Human
|
|
