Aliases for C1QC Gene
External Ids for C1QC Gene
Previous HGNC Symbols for C1QC Gene
Previous GeneCards Identifiers for C1QC Gene
This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. A deficiency in C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N-terminus, and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the C-chain polypeptide of human complement subcomponent C1q. Alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for C1QC Gene
C1QC (Complement Component 1, Q Subcomponent, C Chain) is a Protein Coding gene. Diseases associated with C1QC include c1q deficiency and immunodeficiency due to an early component of complement deficiency. Among its related pathways are Toll-like receptor signaling pathway and Complement and coagulation cascades. An important paralog of this gene is COL8A1.
UniProtKB/Swiss-Prot for C1QC Gene
C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes.