The C6 gene (C6 stands for "complement C6") is a protein-coding gene located at chromosome 5p13.1. Transcript variants encoding the same protein have been described.
C6 Gene
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General informationThis section has been translated automatically.
The C6 gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex (MAC), which can be incorporated into the cell membrane and cause cell lysis.
Mutations in this gene are associated with C6 def iciency (C6 complement component 6 deficiency). Patients with C6 deficiency are prone to severe bacterial infections(N.meningitidis).
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- Bae JY et al.(2020) Recurrent meningococcal meningitis with complement 6 (C6) deficiency: A case report. Medicine (Baltimore) 99: e20362.
- Fukumori Y et al. (1998) Terminal complement component deficiencies in Japan. Exp. Clin. Immunogenet. 15: 244-248.
- Kernbaum S et al (1980) Human deficiency of the sixth component of complement in a patient with meningococcal meningitis and no haemostasis abnormality. Biomedicine 33: 197-201.
- Rauscher CK et al (2020) Clinical implications of C6 complement component deficiency. Allergy Asthma Proc 41:386-388.
- Reinitz E et al (1986) Arthritis and antinuclear antibodies (ANA) with inherited deficiency of the sixth component of complement (C6). Ann Rheum Dis 45: 431-434.