Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Complement component C6

The C6 gene encodes a complement component involved in the membrane attack complex. Mutations cause complement C6 deficiency which may result in immunological abnormalities..

Genetests:

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

Related Diseases:

Complement C6 deficiency
C6

References:

1.

Coto E et al. (1991) DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes.

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2.

Rogne S et al. (1991) The human genes for complement components 6 (C6) and 9 (C9) are closely linked on chromosome 5.

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3.

Setién F et al. (1993) A physical map of the human complement component C6, C7, and C9 genes.

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4.

Lachmann PJ et al. (1978) Combined genetic deficiency of C6 and C7 in man.

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5.

Fernie BA et al. (1996) Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies.

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6.

Vogler LB et al. (1979) Recurrent meningococcal meningitis with absence of the sixth component of complement: an evaluation of underlying immunologic mechanisms.

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7.

Tedesco F et al. (1981) A lupus-like syndrome in a patient with deficiency of the sixth component of complement.

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8.

Würzner R et al. (1995) Molecular basis of subtotal complement C6 deficiency. A carboxy-terminally truncated but functionally active C6.

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9.

Hobart MJ et al. (1993) A physical map of the C6 and C7 complement component gene region on chromosome 5p13.

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10.

Nishizaka H et al. (1996) Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals.

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11.

Zhu ZB et al. (1998) Molecular defects leading to human complement component C6 deficiency in an African-American family.

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12.

Hobart MJ et al. (1998) The molecular basis of C6 deficiency in the western Cape, South Africa.

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13.

Alvarez V et al. (1995) Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7, and C9 components.

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14.

Olving JH et al. (1979) Genetic linkage relations of the sixth component of complement (C6).

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15.

Hobart MJ et al. (1977) Linkage studies with C6.

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16.

Hobart MJ et al. (1978) Inherited structural variation and linkage relationships of C7.

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17.

Olving JH et al. (1977) Nonlinkage between C6 and chromosome 6 markers.

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18.

Podack ER et al. (1976) Purification of the sixth and seventh component of human complement without loss of hemolytic activity.

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19.

Jeremiah SJ et al. (1990) The assignment of the genes coding for human complement components C6 and C7 to chromosome 5.

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20.

DiScipio RG et al. (1989) The molecular architecture of human complement component C6.

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21.

Haefliger JA et al. (1989) Complete primary structure and functional characterization of the sixth component of the human complement system. Identification of the C5b-binding domain in complement C6.

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22.

Tokunaga K et al. (1986) Family study on the polymorphisms of the sixth and seventh components (C6 and C7) of human complement: linkage and haplotype analyses.

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23.

None (1984) Genetic polymorphism and linkage of the sixth and seventh complement components (C6 and C7) in the common marmoset.

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24.

Nakamura S et al. (1984) Genetic polymorphism of complement C6 and haplotype analysis between C6 and C7 in a Japanese population.

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25.

Tokunaga K et al. (1983) Polymorphism of the complement component C6 in Japanese.

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26.

Eldridge PR et al. (1983) The genetics of the sixth and seventh components of complement in the dog: polymorphism, linkage, locus duplication, and silent alleles.

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27.

Bender K et al. (1983) C6 linkage studies.

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28.

Olving JH et al. (1980) Polymorphism of the sixth component of complement (C6) in Norwegian Lapps.

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29.

Hobart MJ et al. (1993) Structure of the human C6 gene.

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30.

Fernie BA et al. (1993) Correlation of a Glu/Ala substitution at position 98 with the complement C6 A/B phenotypes.

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31.

Soejima M et al. (2005) Nucleotide sequence analyses of human complement 6 (C6) gene suggest balancing selection.

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32.

Spicer ST et al. (2007) Induction of passive Heymann nephritis in complement component 6-deficient PVG rats.

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33.

Orphanet article

Orphanet ID 160107 [^]
34.

NCBI article

NCBI 729 [^]
35.

OMIM.ORG article

Omim 217050 [^]
36.

Wikipedia article

Wikipedia EN (Complement_component_6) [^]
Update: April 29, 2019