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Complement component C5

The C5 gene encodes complement component C5 which play a crucial role in initiating the membrane attack complex (MAC). As it is the target of the monoclonal antibody of the medicament Eculizumab genetic variations in this gene may influence responsiveness to a treatment. Also variants in this gene have also been associated with susceptibility to liver fibrosis and rheumatoid arthritis

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:

Poor response to Eculizumab
C5
Complement C5 deficiency
C5
Meningococcal infection susceptibility
C3
C5
C7
C8A
C8B
C8G
C9
CD46
CFB
CFD
CFH
CFP

References:

1.

None (1997) A genome-wide search for asthma susceptibility loci in ethnically diverse populations. The Collaborative Study on the Genetics of Asthma (CSGA).

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2.

Halangk J et al. (2008) Evaluation of complement factor 5 variants as genetic risk factors for the development of advanced fibrosis in chronic hepatitis C infection.

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3.

Plenge RM et. al. (2007) TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

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4.

Pickering MC et al. (2006) Prevention of C5 activation ameliorates spontaneous and experimental glomerulonephritis in factor H-deficient mice.

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5.

Hillebrandt S et al. (2005) Complement factor 5 is a quantitative trait gene that modifies liver fibrogenesis in mice and humans.

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6.

Peng T et al. (2005) Role of C5 in the development of airway inflammation, airway hyperresponsiveness, and ongoing airway response.

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7.

Pfarr N et al. (2005) Linking C5 deficiency to an exonic splicing enhancer mutation.

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8.

Delgado-Cerviño E et al. (2005) C5 complement deficiency in a Spanish family. Molecular characterization of the double mutation responsible for the defect.

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9.

Hillebrandt S et al. (2002) Genome-wide analysis of hepatic fibrosis in inbred mice identifies the susceptibility locus Hfib1 on chromosome 15.

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10.

Wetsel RA et al. (1988) Molecular analysis of human complement component C5: localization of the structural gene to chromosome 9.

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11.

Jeremiah SJ et al. (1988) The assignment of the human gene coding for complement C5 to chromosome 9q22-9q33.

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12.

Haviland DL et al. (1991) Complete cDNA sequence of human complement pro-C5. Evidence of truncated transcripts derived from a single copy gene.

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13.

Carney DF et al. (1991) Structural aspects of the human C5 gene. Intron/exon organization, 5'-flanking region features, and characterization of two truncated cDNA clones.

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14.

Tack BF et al. (1979) Fifth component of human complement: purification from plasma and polypeptide chain structure.

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15.

Nishimura J et al. (2014) Genetic variants in C5 and poor response to eculizumab.

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16.

Wang X et al. (1995) Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families.

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17.

Wetsel RA et al. (1990) Deficiency of the murine fifth complement component (C5). A 2-base pair gene deletion in a 5'-exon.

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18.

Karp CL et al. (2000) Identification of complement factor 5 as a susceptibility locus for experimental allergic asthma.

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19.

Wjst M et al. (1999) A genome-wide search for linkage to asthma. German Asthma Genetics Group.

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20.

Ober C et al. (1998) Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma.

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21.

Gavett SH et al. (1995) Interleukin 12 inhibits antigen-induced airway hyperresponsiveness, inflammation, and Th2 cytokine expression in mice.

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22.

Orphanet article

Orphanet ID 160093 external link
23.

NCBI article

NCBI 727 external link
24.

OMIM.ORG article

Omim 120900 external link
25.

Wikipedia article

Wikipedia EN (Complement_component_5) external link
Update: Aug. 14, 2020
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