GENETIC ENCYCLOPEDIA
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gene: C1QB

id713
symbolC1QB
organismHomo sapiens
full namecomplement C1q B chain
summaryThis gene encodes the B-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. 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. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]
variant-disease

c.455G-A AND C1q deficiency

NM_000491.5(C1QB):c.187+1G>T AND C1q deficiency

NM_000491.5(C1QB):c.549C>T (p.Asn183=) AND C1q deficiency

NM_000491.5(C1QB):c.730G>A (p.Gly244Arg) AND C1q deficiency

NM_000491.5(C1QB):c.400del (p.Leu134fs) AND not provided

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