Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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:

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 C9 deficiency
C9
Meningococcal infection susceptibility
C3
C5
C7
C8A
C8B
C8G
C9
CD46
CFB
CFD
CFH
CFP

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.

Ichikawa E et al. (2001) Hereditary complement (C9) deficiency associated with dermatomyositis.

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3.

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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4.

Abbott C et al. (1989) The gene for human complement component C9 mapped to chromosome 5 by polymerase chain reaction.

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5.

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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6.

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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7.

Horiuchi T et al. (1998) A non-sense mutation at Arg95 is predominant in complement 9 deficiency in Japanese.

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8.

Witzel-Schlömp K et al. (1998) Heterogeneity in the genetic basis of human complement C9 deficiency.

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9.

Khajoee V et al. (2003) Founder effect of the C9 R95X mutation in Orientals.

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10.

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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11.

Shiver JW et al. (1986) The ninth component of human complement (C9). Functional activity of the b fragment.

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12.

Rogne S et al. (1989) The gene for human complement C9 is on chromosome 5.

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13.

Marazziti D et al. (1988) Relationships between the gene and protein structure in human complement component C9.

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14.

DiScipio RG et al. (1984) Nucleotide sequence of cDNA and derived amino acid sequence of human complement component C9.

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15.

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

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16.

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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17.

OMIM.ORG article

Omim 120940 [^]
18.

Orphanet article

Orphanet ID 160126 [^]
19.

NCBI article

NCBI 735 [^]
20.

Wikipedia article

Wikipedia EN (Complement_component_9) [^]
Update: April 29, 2019