Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| Research | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
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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| 2. |
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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| 3. |
Nonaka MI et al. (2003) Complement C4b-binding protein as a novel murine epididymal secretory protein.
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| 4. |
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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| 5. |
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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| 6. |
Scharfstein J et al. (1978) Human C4-binding protein. I. Isolation and characterization.
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| 7. |
Hillarp A et al. (1990) Cloning of cDNA coding for the beta chain of human complement component C4b-binding protein: sequence homology with the alpha chain.
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| 8. |
Pardo-Manuel F et al. (1990) Human genes for the alpha and beta chains of complement C4b-binding protein are closely linked in a head-to-tail arrangement.
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| 9. |
Hillarp A et al. (1988) Novel subunit in C4b-binding protein required for protein S binding.
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| 10. |
Rodríguez de Córdoba S et al. (1994) The gene coding for the beta-chain of C4b-binding protein (C4BPB) has become a pseudogene in the mouse.
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| 11. |
Hillarp A et al. (1993) The human C4b-binding protein beta-chain gene.
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| 12. |
NCBI article NCBI 725
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| 13. |
OMIM.ORG article Omim 120831
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