TY - JOUR
T1 - Complement regulator CD46
T2 - Genetic variants and disease associations
AU - Kathryn Liszewski, M.
AU - Atkinson, John P.
N1 - Funding Information:
MKL & JPA were supported by a) the National Institute of General Medical Sciences of the National Institutes of Health under Award Number R01GM099111 and by b) the National Heart, Lung, and Blood Institute of the National Institutes of Health under Award Number U54HL112303. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
Publisher Copyright:
© 2015 Liszewski and Atkinson.
PY - 2015
Y1 - 2015
N2 - 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.
AB - 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.
KW - Atypical hemolytic uremic syndrome
KW - CD46
KW - Complement
KW - Complement regulation
KW - Membrane cofactor protein
UR - http://www.scopus.com/inward/record.url?scp=85075591967&partnerID=8YFLogxK
U2 - 10.1186/s40246-015-0029-z
DO - 10.1186/s40246-015-0029-z
M3 - Review article
C2 - 26054645
AN - SCOPUS:85075591967
SN - 1473-9542
VL - 9
JO - Human genomics
JF - Human genomics
M1 - 7
ER -