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10.1186/s40246-015-0029-z

http://scihub22266oqcxt.onion/10.1186/s40246-015-0029-z
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suck abstract from ncbi


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pmid26054645      Hum+Genomics 2015 ; 9 (1): ä
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  • Complement regulator CD46: genetic variants and disease associations #MMPMID26054645
  • Liszewski MK; Atkinson JP
  • Hum Genomics 2015[]; 9 (1): ä PMID26054645show ga
  • 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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