Title |
Complement regulator CD46: genetic variants and disease associations
|
---|---|
Published in |
Human Genomics, June 2015
|
DOI | 10.1186/s40246-015-0029-z |
Pubmed ID | |
Authors |
M. Kathryn Liszewski, John P. Atkinson |
Abstract |
Membrane cofactor protein (MCP; CD46) is an ubiquitously expressed complement regulatory protein that protects host cells from injury by complement. This type-I membrane glycoprotein serves as a cofactor for the serine protease factor I to mediate inactivation of C3b and C4b deposited on host cells. More than 60 disease-associated mutations in MCP have now been identified. The majority of the mutations are linked to a rare thrombotic microangiopathic-based disease, atypical hemolytic uremic syndrome (aHUS), but new putative links to systemic lupus erythematosus, glomerulonephritis, and pregnancy-related disorders among others have also been identified. This review summarizes our current knowledge of disease-associated mutations in this complement inhibitor. |
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