Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Complement component C8, A chain

The C8A gene encodes the alpha subunit of the complement component 8. C8 participates in the formation of the membrane attack complex (MAC) which disrupts bacterial walls, which mediates cell lysis. Mutations cause autosomal recessive complement C8 deficiency type 1.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Complement C8 deficiency type 1
C8A
Meningococcal infection susceptibility
C3
C5
C7
C8A
C8B
C8G
C9
CD46
CFB
CFD
CFH
CFP

References:

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.

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

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5.

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

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6.

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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7.

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

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8.

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

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9.

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

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10.

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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11.

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

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12.

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

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13.

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

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14.

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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15.

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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16.

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

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17.

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

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18.

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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19.

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

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20.

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

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Update: Sept. 26, 2018