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:
Related Diseases:
References:
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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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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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18. |
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22. |
Orphanet article
Orphanet ID 160093
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23. |
NCBI article
NCBI 727
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24. |
OMIM.ORG article
Omim 120900
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25. |
Wikipedia article
Wikipedia EN (Complement_component_5)
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Update: Aug. 14, 2020