Aliases for C1QA Gene
External Ids for C1QA Gene
Previous GeneCards Identifiers for C1QA Gene
This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains which include 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. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
GeneCards Summary for C1QA Gene
C1QA (Complement C1q A Chain) is a Protein Coding gene. Diseases associated with C1QA include C1q Deficiency and Immunodeficiency Due To A Classical Component Pathway Complement Deficiency. Among its related pathways are Creation of C4 and C2 activators and Toll-like receptor signaling pathway. An important paralog of this gene is C1QTNF8.
UniProtKB/Swiss-Prot for C1QA 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.