Complement component C8, B chain
The C8B gene encodes the beta 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 2.
Genetests:
Related Diseases:
References:
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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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2. |
Rogde S et al. (1986) The C8A and C8B loci are closely linked on chromosome 1.
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3. |
Saucedo L et al. (1995) Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis.
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4. |
Kaufmann T et al. (1993) Genetic basis of human complement C8 beta deficiency.
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5. |
Bahary N et al. (1991) Molecular genetic linkage maps of mouse chromosomes 4 and 6.
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6. |
Arnold DF et al. (2009) A novel mutation in a patient with a deficiency of the eighth component of complement associated with recurrent meningococcal meningitis.
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7. |
Herrmann D et al. (1989) DNA polymorphism of the human complement C8 beta gene: formal genetics and intragenic localization.
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8. |
Kaufmann T et al. (1993) The human complement component C8B gene: structure and phylogenetic relationship.
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9. |
Orphanet article
Orphanet ID 160119
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10. |
NCBI article
NCBI 732
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11. |
OMIM.ORG article
Omim 120960
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Update: Aug. 14, 2020