C1QA

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.

C1q deficiency 1

C1QD1

An autosomal recessive disorder caused by impaired activation of the complement classical pathway. It generally leads to severe immune complex disease characterized by recurrent skin lesions, chronic infections, an increased risk of systemic lupus erythematosus, and glomerulonephritis.

None

The disease is caused by variants affecting the gene represented in this entry.

O-linked glycans are assumed to be the Glc-Gal disaccharides typically found as secondary modifications of hydroxylated lysines in collagen-like domains.

• Secreted

Complement C1q subcomponent subunit A, C1QA

• entrezGene:713
• entrezGene:714
• entrezGene:712
• omim:120550
• omim:120570
• omim:120575
• swissprot:P02745
• swissprot:P02746
• swissprot:P02747

Proteins

Neuroscience

26017Da