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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