Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| 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 |
Complement C8 deficiency
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C8G
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Complement C8 deficiency type 1
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C8A
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Complement C8 deficiency type 2
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C8B
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| 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
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| 10. |
NCBI article NCBI 733
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| 11. |
OMIM.ORG article Omim 120930
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