Complement regulator CD46: genetic variants and disease associations
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....
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| Veröffentlicht in: | Human Genomics 2015-06, Vol.9 (1), p.7-7, Article 7 |
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| description | 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. |
| doi_str_mv | 10.1186/s40246-015-0029-z |
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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. 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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.</description><subject>Amino acids</subject><subject>B cells</subject><subject>Complement C3b - genetics</subject><subject>Complement C3b - metabolism</subject><subject>Complement C4b - genetics</subject><subject>Complement C4b - metabolism</subject><subject>Female</subject><subject>Genetic aspects</subject><subject>Glomerulonephritis - genetics</subject><subject>Glomerulonephritis - pathology</subject><subject>Health aspects</subject><subject>Humans</subject><subject>Lupus Erythematosus, Systemic - genetics</subject><subject>Lupus Erythematosus, Systemic - pathology</subject><subject>Membrane Cofactor Protein - genetics</subject><subject>Membrane Cofactor Protein - metabolism</subject><subject>Mutation</subject><subject>Pregnancy</subject><subject>Pregnancy Complications - genetics</subject><subject>Review</subject><subject>Thrombin</subject><issn>1479-7364</issn><issn>1473-9542</issn><issn>1479-7364</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNpdkU9v1DAQxSMEoqXwAbigSFy4pIz_xuaAVG1pQarEBc7WrDNZXCX2YieV2k-Pqy1VwT54ZL_f84xe07xlcMqY0R-LBC51B0x1ANx2d8-aYyZ72_VCy-dP6qPmVSnXAIKJXr5sjrgGJbVUx835Js37iWaKS5tpt064pNxuzqX-1O4o0hJ8e4M5YFxKi3Foh1AIC7VYSvIBl5Bied28GHEq9ObhPGl-Xnz5sfnaXX2__LY5u-q8smbp_FZzBAKjheYEbBhAGDDCg-xJaSG5lYLGQeB2JMW3iKC97UlI0MgrddJ8Pvju1-1Mg69NZ5zcPocZ861LGNy_LzH8crt046TUtq5q8OHBIKffK5XFzaF4miaMlNbimDbWSGFsX6Xv_5NepzXHOp5jBjjvlTK8qk4Pqh1O5EIcU_3X1z3QHHyKNIZ6f6Yk09oCsAqwA-BzKiXT-Ng9A3cfqjuE6mqo7j5Ud1eZd0_HfiT-pij-AOyFnKg</recordid><startdate>20150610</startdate><enddate>20150610</enddate><creator>Liszewski, M Kathryn</creator><creator>Atkinson, John P</creator><general>BioMed Central Ltd</general><general>BioMed Central</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>IAO</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20150610</creationdate><title>Complement regulator CD46: genetic variants and disease associations</title><author>Liszewski, M Kathryn ; 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CD46) is an ubiquitously expressed complement regulatory protein that protects host cells from injury by complement. 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| subjects | Amino acids B cells Complement C3b - genetics Complement C3b - metabolism Complement C4b - genetics Complement C4b - metabolism Female Genetic aspects Glomerulonephritis - genetics Glomerulonephritis - pathology Health aspects Humans Lupus Erythematosus, Systemic - genetics Lupus Erythematosus, Systemic - pathology Membrane Cofactor Protein - genetics Membrane Cofactor Protein - metabolism Mutation Pregnancy Pregnancy Complications - genetics Review Thrombin |
| title | Complement regulator CD46: genetic variants and disease associations |
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