Summary
Performance
Immunogen
Application
Background
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],disease:Defects in C6 are the cause of complement component 6 deficiency (C6D) [MIM:612446].,function:Involved in the formation of the lytic c5b-9m complex.,online information:C6 mutation db,polymorphism:The sequence shown is that of allotype C6 B.,PTM: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.,similarity:Belongs to the complement C6/C7/C8/C9 family.,similarity:Contains 1 EGF-like domain.,similarity:Contains 1 LDL-receptor class A domain.,similarity:Contains 1 MACPF domain.,similarity:Contains 2 Sushi (CCP/SCR) domains.,similarity:Contains 3 TSP type-1 domains.,
Research Area
Complement and coagulation cascades;Prion diseases;Systemic lupus erythematosus;
