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C6

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.

Involvement in disease

Complement component 6 deficiency

C6D

A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

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.

Sequence Similarities

Belongs to the complement C6/C7/C8/C9 family.

Cellular localization

Alternative names

Complement component C6, C6

swissprot:P13671 omim:217050 entrezGene:729