GENETIC ENCYCLOPEDIA
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gene: C4BPB

id725
symbolC4BPB
organismHomo sapiens
full namecomplement component 4 binding protein beta
summaryThis gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. A single, unique beta-chain encoded by this gene assembles with seven identical alpha-chains into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. C4b-binding protein has a regulatory role in the coagulation system also, mediated through the beta-chain binding of protein S, a vitamin K-dependent protein that serves as a cofactor of activated protein C. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Alternative splicing gives rise to multiple transcript variants. [provided by RefSeq, Jul 2008]
variant-disease

NM_001017365.3(C4BPB):c.410-12C>T AND not specified

NM_001017365.3(C4BPB):c.232+3A>G AND not specified

NM_001017365.3(C4BPB):c.410-9T>C AND not specified

NM_001017365.3(C4BPB):c.462C>T (p.Asn154=) AND not specified

GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646) AND multiple conditions

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