Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Complement component C8, C 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 are not yet associated with clinical symptoms.

Genetests:

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

Related Diseases:

Complement C8 deficiency
C8G
Complement C8 deficiency type 1
C8A
Complement C8 deficiency type 2
C8B
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.

Hunt LT et al. (1987) The homology of complement factor C8 gamma chain and alpha-1-microglobulin.

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3.

Haefliger JA et al. (1987) Structural homology of human complement component C8 gamma and plasma protein HC: identity of the cysteine bond pattern.

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4.

Kaufman KM et al. (1989) Chromosomal assignment of genes encoding the alpha, beta, and gamma subunits of human complement protein C8: identification of a close physical linkage between the alpha and the beta loci.

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5.

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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6.

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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7.

Chan P et al. (1994) Comparative mapping of lipocalin genes in human and mouse: the four genes for complement C8 gamma chain, prostaglandin-D-synthase, oncogene-24p3, and progestagen-associated endometrial protein map to HSA9 and MMU2.

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8.

Dewald G et al. (1996) The human complement C8G gene, a member of the lipocalin gene family: polymorphisms and mapping to chromosome 9q34.3.

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9.

Orphanet article

Orphanet ID 160121 [^]
10.

NCBI article

NCBI 733 [^]
11.

OMIM.ORG article

Omim 120930 [^]
Update: April 29, 2019