C4b-binding protein alpha chain
C4b-binding protein is composed of alpha and beta chains. Three isoforms can be distinguished that constitute 7 alpha and one or none beta or 6 alpha and one beta chains, which are covalently bound by disulfid bridges. Function includes inactivation of activated complement factor 4 in the classical complement activation pathway and binding of coagulation factor protein S. 60% of plasma protein S is non covalently bound to C4b-binding protein. Hence variations of the genes have been associated with various conditions such as thrombophilia, atypical HUS, various infections, immunological type 1 diabetes, and even schizophrenia.
Genetests:
Related Diseases:
References:
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Hing S et al. (1988) Assignment of complement components C4 binding protein (C4BP) and factor H (FH) to human chromosome 1q, using cDNA probes.
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Scharfstein J et al. (1978) Human C4-binding protein. I. Isolation and characterization.
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Dahlbäck B et al. (1981) High molecular weight complex in human plasma between vitamin K-dependent protein S and complement component C4b-binding protein.
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Törn C et al. (2016) Complement gene variants in relation to autoantibodies to beta cell specific antigens and type 1 diabetes in the TEDDY Study.
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Nonaka MI et al. (2003) Complement C4b-binding protein as a novel murine epididymal secretory protein.
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Buil A et al. (2010) C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studies.
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Blom AM et al. (2008) A novel non-synonymous polymorphism (p.Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity.
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Ngampasutadol J et al. (2005) Human C4b-binding protein selectively interacts with Neisseria gonorrhoeae and results in species-specific infection.
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Sánchez-Corral P et al. (1993) C4BPAL1, a member of the human regulator of complement activation (RCA) gene cluster that resulted from the duplication of the gene coding for the alpha-chain of C4b-binding protein.
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Nagasawa S et al. (1980) Purification and characterization of a macromolecular weight cofactor for C3b-inactivator, C4bC3bINA-cofactor, of human plasma.
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Kaidoh T et al. (1981) Murine binding protein of the fourth component of complement: structural polymorphism and its linkage to the major histocompatibility complex.
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de Cordoba SR et al. (1983) Genetic polymorphism of human C4-binding protein.
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Rodriguez de Cordoba S et al. (1984) Evidence for linkage between the loci coding for the binding protein for the fourth component of human complement (C4BP) and for the C3b/C4b receptor.
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Hatch JA et al. (1984) Evaluation of linkage of the human C3b/C4b receptor to HLA.
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Matsuguchi T et al. (1989) Molecular cloning of the cDNA coding for proline-rich protein (PRP): identity of PRP as C4b-binding protein.
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Barnum SR et al. (1989) Molecular analysis of the murine C4b-binding protein gene. Chromosome assignment and partial gene organization.
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Rey-Campos J et al. (1988) A physical map of the human regulator of complement activation gene cluster linking the complement genes CR1, CR2, DAF, and C4BP.
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18. |
Andersson A et al. (1990) Genes for C4b-binding protein alpha- and beta-chains (C4BPA and C4BPB) are located on chromosome 1, band 1q32, in humans and on chromosome 13 in rats.
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Aso T et al. (1991) Genomic organization of the alpha chain of the human C4b-binding protein gene.
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20. |
Gigli I et al. (1979) Modulation of the classical pathway C3 convertase by plasma proteins C4 binding protein and C3b inactivator.
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Rodriguez de Cordoba S et al. (1985) Human genes for three complement components that regulate the activation of C3 are tightly linked.
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22. |
Brodeur SR et al. (2003) C4b-binding protein (C4BP) activates B cells through the CD40 receptor.
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NCBI article
NCBI 722
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OMIM.ORG article
Omim 120830
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Update: Aug. 14, 2020