Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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C4b-Bindungsprotein alpha Kette

Das C4b-Bindunsprotein setzt sich zusammen aus alpha- und beta-Ketten. Drei Isoformen werden unterschieden bestehend aus jeweils 7 alpha- und einer oder keine beta-Kette oder aus 6 alpha- und einer beta-Kette, die über Disulfidbrücken miteinander verbunden sind. Die Funktion umfasst eine Inaktivierung des Komplementfaktors C4 im klassischen Weg der Komplementaktivierung. Weiterhin ist das Zusammespiel mit dem Gerinnungsfaktor Protein S zu erwähnen. Etwa 60% des im Plasma vorhandenen protein S ist an C4b-Bindungprotein nichtkovalent gekoppelt. Aufgrund dieser Rolle im Komplement- und Gerinnungssystem hat man die Polymorphismen dieses gens mit verschiedenen Erkrankungen assoziiert, so Thrombophilie, aHUS, Infektabwehr, immunologisch ausgelöster Typ 1 Diabetes und Schizophrenie.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Hämolytisch Urämisches Syndrom
ADAMTS13
C3
C4BPA
C4BPB
CD46
CFB
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
CLU
DGKE
Methylmalonazidurie
Methylmalonazidurie Typ mut
MUT
Methylmalonazidurie mit Homozysteinurie cblC
MMACHC
Methylmalonazidurie mit Homozysteinurie cblD
MMADHC
PIGA
PLG
THBD

Referenzen:

1.

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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2.

Scharfstein J et al. (1978) Human C4-binding protein. I. Isolation and characterization.

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3.

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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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.

Nonaka MI et al. (2003) Complement C4b-binding protein as a novel murine epididymal secretory protein.

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6.

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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7.

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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8.

Ngampasutadol J et al. (2005) Human C4b-binding protein selectively interacts with Neisseria gonorrhoeae and results in species-specific infection.

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9.

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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10.

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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11.

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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12.

de Cordoba SR et al. (1983) Genetic polymorphism of human C4-binding protein.

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13.

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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14.

Hatch JA et al. (1984) Evaluation of linkage of the human C3b/C4b receptor to HLA.

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15.

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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16.

Barnum SR et al. (1989) Molecular analysis of the murine C4b-binding protein gene. Chromosome assignment and partial gene organization.

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17.

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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19.

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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21.

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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23.

NCBI article

NCBI 722 external link
24.

OMIM.ORG article

Omim 120830 external link
Update: 14. August 2020
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