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Article

Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.

Proceedings of the National Academy of Sciences of the United States of America - 28 Oct 2003

Richards Anna, Kemp Elizabeth J, Liszewski M Kathryn, Goodship Judith A, Lampe Anne K, Decorte Ronny, Müslümanoğlu M Hamza, Kavukcu Salih, Filler Guido, Pirson Yves, Wen Leana S, Atkinson John P, Goodship Timothy H J

Abstract excerpt

Membrane cofactor protein (MCP; CD46) is a widely expressed transmembrane complement regulator. Like factor H it inhibits complement activation by regulating C3b deposition on targets. Factor H mutations occur in 10-20% of patients with hemolytic uremic syndrome (HUS). We hypothesized that MCP mutations could predispose to HUS, and we sequenced MCP coding exons in affected individuals from 30 families. MCP...

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Identifiers

PMID: 14566051
DOI: 10.1073/pnas.2135497100
PMCID: PMC240728

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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