The C6 gene encodes a component of the complement system, part of the innate immune system involved in inflammation and immune response.
Gene SymbolC6
Full NameComplement Component 6
Chromosomal Location5p13.1
Ensembl IDENSG00000124357
Associated DiseasesComplement Deficiency, Neisseria Infections
The C6 gene encodes complement component 6, a terminal complement protein essential for formation of the membrane attack complex (MAC). C6 is a single polypeptide that circulates in plasma and binds to the C5b-7 complex to form C5b-6-7, which then inserts into target cell membranes.
The MAC assembly sequence:
- C5b + C6 → C5b-6
- C5b-6 + C7 → C5b-6-7 (membrane插入)
- C5b-6-7 + C8 → C5b-6-7-8 (pore formation begins)
- C5b-6-7-8 + C9 → C5b-6-7-8-9 (complete MAC)
The MAC creates a transmembrane pore that can lead to cell lysis.
- Alzheimer's Disease: MAC formation can occur in AD brain and may contribute to neuronal injury. The terminal complement complex (C5b-9) is found in AD lesions.
- Parkinson's Disease: Evidence of complement activation and MAC deposition has been reported in PD brain.
- Multiple Sclerosis: Complement-mediated demyelination involves MAC formation.
- C6 deficiency predisposes to recurrent Neisseria infections
- Genetic variants may influence susceptibility to various conditions
- Liver: Primary site of synthesis
- Brain: Expressed by glial cells
- Various tissues: Lower expression in many tissues
- Rus et al., Complement activation in neurological disease (2005)
- Barnum, Complement in central nervous system disease (2002)
- Janeway et al., Immunobiology (9th ed., 2016)
- Ricklin et al., Complement in disease (2013)
- Merle et al., Complement system (2015)