Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Komplement-Komponente C8, A-Kette

Das C8A-Gen kodiert die alpha Polypeptidkette des Complementfaktors 8. Dieser Faktor ist am membrane attack complex (MAC) beteiligt, welcher Poren in die Bakterienwände bestimmter Bakterien zu reißen und damit die Zerstörung herbeizuführen vermag. Mutationen sind für den autosomal rezessiven Complementfaktor 8-Mangel Typ 1 verantwortlich.

Gentests:

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

Verknüpfte Erkrankungen:

Komplement C8-Mangel Typ 1
C8A
Meningokokken-Infektanfälligkeit
C3
C5
C7
C8A
C8B
C8G
C9
CD46
CFB
CFD
CFH
CFP

Referenzen:

1.

Klob WP et al. (1976) The membrane attack mechanism of complement: the three polypeptide chain structure of the eigth component (C8).

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2.

Ng SC et al. (1987) The eighth component of human complement: evidence that it is an oligomeric serum protein assembled from products of three different genes.

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3.

Brickner A et al. (1985) Functional domains of the alpha subunit of the eighth component of human complement: identification and characterization of a distinct binding site for the gamma chain.

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4.

Kojima T et al. (1998) Genetic basis of human complement C8 alpha-gamma deficiency.

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5.

Rogde S et al. (1992) Linkage and association studies with C8A and C8B RFLPs on chromosome 1.

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6.

Giraldo G et al. (1977) C8 deficiency in a family with xeroderma pigmentosum. Lack of linkage to the HLA region.

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7.

Theriault A et al. (1992) Regional chromosomal assignment of genes encoding the alpha and beta subunits of human complement protein C8 to 1p32.

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8.

Rosado CJ et al. (2007) A common fold mediates vertebrate defense and bacterial attack.

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9.

Hadders MA et al. (2007) Structure of C8alpha-MACPF reveals mechanism of membrane attack in complement immune defense.

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10.

Rogde S et al. (1986) The C8A and C8B loci are closely linked on chromosome 1.

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11.

Rittner C et al. (1986) Human C81 (alpha-gamma) polymorphism: detection in the alpha-gamma subunit on SDS-PAGE, formal genetics and linkage relationship.

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12.

Nakamura S et al. (1986) Genetic polymorphism of human complement component C81 in the Japanese population.

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13.

Rogde S et al. (1985) Genetic polymorphism of complement component C8.

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14.

Komatsu M et al. (1985) Genetic deficiency of the alpha-gamma-subunit of the eighth complement component in the rabbit.

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15.

Densen P et al. (1983) Inherited deficiency of C8 in a patient with recurrent meningococcal infections: further evidence for a dysfunctional C8 molecule and nonlinkage to the HLA system.

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16.

Alper CA et al. (1983) Genetic polymorphism in C8 beta-chains. Evidence for two unlinked genetic loci for the eighth component of human complement (C8).

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17.

Rittner C et al. (1984) Population and formal genetics of the human C81(alpha-gamma) polymorphism.

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18.

Zhang L et al. (1995) The eighth component of human complement: molecular basis of C8A (C81) polymorphism.

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19.

Michelotti GA et al. (1995) Genomic organization of human complement protein C8 alpha and further examination of its linkage to C8 beta.

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20.

Merritt AD et al. (1976) Chromosome 6: linkage of the eighth component of complement (C8) to the histocompatibility region (HLA).

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21.

NCBI article

NCBI 731 [^]
22.

OMIM.ORG article

Omim 120950 [^]
23.

Orphanet article

Orphanet ID 160117 [^]
Update: 29. April 2019