Home > A. Molecular pathology > CD46
CD46
Tuesday 4 May 2004
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.
Pathology
mutations of the CD46 gene in atypical hemolytic uremic syndrome (HUS)
- heterozygous deletion resulting in the intracellular retention of the mutant protein
- different heterozygous deletion leading to a premature stop codon and the loss of the C-terminus
- substitution (S206P) resulting in cell-surface expression but inefficient inactivation of surface-bound C3b
Features
factor-H mutations in 15-30% of patients with atypical hemolytic uremic syndrome (HUS)
References
Gill DB, Atkinson JP. CD46 in Neisseria pathogenesis. Trends Mol Med. 2004 Sep;10(9):459-65. PMID: 15350899
Goodship TH, Liszewski MK, Kemp EJ, Richards A, Atkinson JP. Mutations in CD46, a complement regulatory protein, predispose to atypical HUS. Trends Mol Med. 2004 May 1;10(5):226-231. PMID: 15121049
