Complement component C9
The C9 gene encodes a component of the Membrane Attack Complex (MAC) the final step of the complement cascade. Mutations cause component C9 deficiency that seems to have no clinical consequences.
Genetests:
Related Diseases:
References:
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Ichikawa E et al. (2001) Hereditary complement (C9) deficiency associated with dermatomyositis.
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2. |
Kira R et al. (1998) Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency.
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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. |
DiScipio RG et al. (1984) Nucleotide sequence of cDNA and derived amino acid sequence of human complement component C9.
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5. |
Marazziti D et al. (1988) Relationships between the gene and protein structure in human complement component C9.
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6. |
Rogne S et al. (1989) The gene for human complement C9 is on chromosome 5.
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7. |
Shiver JW et al. (1986) The ninth component of human complement (C9). Functional activity of the b fragment.
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8. |
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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9. |
Khajoee V et al. (2003) Founder effect of the C9 R95X mutation in Orientals.
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10. |
Witzel-Schlömp K et al. (1998) Heterogeneity in the genetic basis of human complement C9 deficiency.
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11. |
Horiuchi T et al. (1998) A non-sense mutation at Arg95 is predominant in complement 9 deficiency in Japanese.
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12. |
Hobart MJ et al. (1997) Difficulties in the ascertainment of C9 deficiency: lessons to be drawn from a compound heterozygote C9-deficient subject.
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13. |
Witzel-Schlömp K et al. (1997) The human complement C9 gene: identification of two mutations causing deficiency and revision of the gene structure.
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14. |
Abbott C et al. (1989) The gene for human complement component C9 mapped to chromosome 5 by polymerase chain reaction.
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15. |
Zoppi M et al. (1990) Recurrent meningitis in a patient with congenital deficiency of the C9 component of complement. First case of C9 deficiency in Europe.
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16. |
Coto E et al. (1991) DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes.
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17. |
OMIM.ORG article
Omim 120940
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18. |
Orphanet article
Orphanet ID 160126
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19. |
NCBI article
NCBI 735
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20. |
Wikipedia article
Wikipedia EN (Complement_component_9)
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Update: Aug. 14, 2020