Article
Mutations in CD46, a complement regulatory protein, predispose to atypical HUS.
Trends in molecular medicine - 1 May 2004
Goodship Timothy H J, Liszewski M Kathryn, Kemp Elizabeth J, Richards Anna, Atkinson John P
Abstract excerpt
Membrane cofactor protein (MCP, CD46) is a widely expressed transmembrane complement regulator. As does the soluble regulator factor H, it inhibits complement activation by inactivating the C3b that is deposited on target membranes. Factor H mutations have been described in 15-30% of patients with atypical haemolytic uraemic syndrome (HUS). Recent studies have identified mutations in the MCP gene in four...
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