The C1Qc gene (C1QC stands for Complement C1q C Chain) is a protein-coding gene located at chromosome 1p36.12.
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C1QC Gene
DefinitionThis section has been translated automatically.
General informationThis section has been translated automatically.
The C1QC gene encodes the C-chain polypeptide of the serum complement subcomponent C1q, which associates with C1r and C1s to form the first component of the serum complement system. C1q consists of 18 polypeptide chains, including 6 A chains, 6 B chains, and 6 C chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis.
Diseases associated with C1QC include "familial C1q deficiency."
C1q associates with the proenzymes C1r and C1s to form C1, the first component of the serum complement system. The collagen-like domains of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex. Efficient activation of C1 occurs through interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibodies in immune complexes.
LiteratureThis section has been translated automatically.
- Bruiners N et al. (2020) A regulatory variant in the C1Q gene cluster is associated with tuberculosis susceptibility and C1qA plasma levels in a South African population. Immunogenetics 72:305-314.
- Hannema AJ et al (1984) SLE like syndrome and functional deficiency of C1q in members of a large family. Clin Exp Immun 55: 106-114.
- Higuchi Yet al. (2013) The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: a case report. Pediat Rheum Online J 11: 41.
- Ling GS et al (2018) C1q restrains autoimmunity and viral infection by regulating CD8+ T cell metabolism. Science 360: 558-563.
- Lopez-Lera A et al. (2014) M. Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a gly164ser C1qC mutation. (Letter) J Invest Derm 134: 1152-1154.