title: Complement regulator CD46: genetic variants and disease associations.
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.
authors.affiliation: Division of Rheumatology, Department of Medicine, Washington University School of Medicine, 660 South Euclid, Saint Louis, MO, 63110, USA. kliszews@dom.wustl.edu.
authors.forename: M Kathryn
authors.initials: MK
authors.lastname: Liszewski
authors.affiliation: Division of Rheumatology, Department of Medicine, Washington University School of Medicine, 660 South Euclid, Saint Louis, MO, 63110, USA. jatkinso@dom.wustl.edu.
authors.forename: John P
authors.initials: JP
authors.lastname: Atkinson
mesh_terms: D003179:Complement C3b / Q000235:genetics / Q000378:metabolism; D015935:Complement C4b / Q000235:genetics / Q000378:metabolism; D005260:Female; D005921:Glomerulonephritis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000473:pathology; D051916:Membrane Cofactor Protein / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics
chemical_list: C497857:CD46 protein, human; D051916:Membrane Cofactor Protein; D003179:Complement C3b; D015935:Complement C4b