Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 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 type 2
C8B
Meningococcal infection susceptibility
C3
C5
C7
C8A
C8B
C8G
C9
CD46
CFB
CFD
CFH
CFP

References:

1.

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 [^]
10.

NCBI article

NCBI 732 [^]
11.

OMIM.ORG article

Omim 120960 [^]
Update: April 29, 2019