The membrane protein encoded by the MCP gene is involved in complement activation amd measles infection. Mutations lead to atypical hemolytic uremic syndrome (aHUS) and theoretically may influence susceptibility to measles.
The receptor protein passes the membrane only once. The short N-terminal portion is intracellular. The extracellular portion is of beginning from the C-terminal endcomposed 4 SCR (short consensus repeat) domains and 2 serin-, threonin-, and prolin-rich domains. The SCR are incolved in complement control and therefore sometimes also called complement control proteins (CCP) though they are not proteins but domains.
The complement binding receptor (CD46) is expressed on all human cells except erythrocytes.
Heterozygous mutations may result in either reduced receptor expression on the cell surface (75%) or impaired receptor function (25%). 93% of pathogenetic mutations are located in the 4 SCR (short consensus repeat) domains.
The penetrance appears to be 54%.[Error: Macro 'ref' doesn't exist]
Clinic | Method | Carrier testing |
Turnaround | 5 days | |
Specimen type | genomic DNA |
Clinic | Method | Massive parallel sequencing |
Turnaround | 25 days | |
Specimen type | genomic DNA |
Clinic | Method | Genomic sequencing of the entire coding region |
Turnaround | 20 days | |
Specimen type | genomic DNA |
Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
Turnaround | 20 days | |
Specimen type | genomic DNA |
1. |
Bora NS et al. (1989) Structural gene for human membrane cofactor protein (MCP) of complement maps to within 100 kb of the 3' end of the C3b/C4b receptor gene. |
3. |
Oliaro J et al. (2006) Ligation of the cell surface receptor, CD46, alters T cell polarity and response to antigen presentation. |
4. |
Karosi T et al. (2008) Disease-associated novel CD46 splicing variants and pathologic bone remodeling in otosclerosis. |
5. |
Yanagi Y et al. (2009) Measles virus receptors. |
6. |
Kemper C et al. (2009) Measles virus and CD46. |
7. |
Purcell DF et al. (1991) Identification of four different CD46 (MCP) molecules with anti-peptide antibodies. |
8. |
Santiago C et al. (2010) Structure of the measles virus hemagglutinin bound to the CD46 receptor. |
9. |
Haralambieva IH et al. (2011) Genetic polymorphisms in host antiviral genes: associations with humoral and cellular immunity to measles vaccine. |
11. |
Andrews PW et al. (1985) A human cell-surface antigen defined by a monoclonal antibody and controlled by a gene on human chromosome 1. |
12. |
Nürnberger J et al. (2009) Eculizumab for atypical hemolytic-uremic syndrome. |
13. |
Lublin DM et al. (1988) Molecular cloning and chromosomal localization of human membrane cofactor protein (MCP). Evidence for inclusion in the multigene family of complement-regulatory proteins. |
14. |
Pirson Y et al. (1987) Hemolytic uremic syndrome in three adult siblings: a familial study and evolution. |
15. |
McIntyre JA et al. (1983) Human trophoblast-lymphocyte cross-reactive (TLX) antigens define a new alloantigen system. |
17. |
Dörig RE et al. (1993) The human CD46 molecule is a receptor for measles virus (Edmonston strain). |
18. |
Källström H et al. (1997) Membrane cofactor protein (MCP or CD46) is a cellular pilus receptor for pathogenic Neisseria. |
19. |
Goodship TH et al. (2004) Mutations in CD46, a complement regulatory protein, predispose to atypical HUS. |
20. |
Richards A et al. (2007) Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome. |
21. |
Zheng XL et al. (2008) Pathogenesis of thrombotic microangiopathies. |
22. |
Caprioli J et al. (2006) Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. |
23. |
Xiang L et al. (1999) Quantitative alleles of CR1: coding sequence analysis and comparison of haplotypes in two ethnic groups. |
24. |
Warwicker P et al. (1998) Genetic studies into inherited and sporadic hemolytic uremic syndrome. |
25. |
Santoro F et al. (1999) CD46 is a cellular receptor for human herpesvirus 6. |
26. |
Tatsuo H et al. (2000) SLAM (CDw150) is a cellular receptor for measles virus. |
27. |
Källström H et al. (2001) Attachment of Neisseria gonorrhoeae to the cellular pilus receptor CD46: identification of domains important for bacterial adherence. |
28. |
Marie JC et al. (2002) Linking innate and acquired immunity: divergent role of CD46 cytoplasmic domains in T cell induced inflammation. |
29. |
Kemper C et al. (2003) Activation of human CD4+ cells with CD3 and CD46 induces a T-regulatory cell 1 phenotype. |
30. |
Schneider-Schaulies J et al. (2003) Measles infection of the central nervous system. |
31. |
Johansson L et al. (2003) CD46 in meningococcal disease. |
32. |
Richards A et al. (2003) Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. |
33. |
Gaggar A et al. (2003) CD46 is a cellular receptor for group B adenoviruses. |
34. |
Noris M et al. (2003) Familial haemolytic uraemic syndrome and an MCP mutation. |
37. |
Gaggar A et al. (2005) Localization of regions in CD46 that interact with adenovirus. |
38. |
Cassiani-Ingoni R et al. (2005) CD46 on glial cells can function as a receptor for viral glycoprotein-mediated cell-cell fusion. |
39. |
Yanagi Y et al. (2006) Measles virus receptors and tropism. |
41. |
Sood R et al. (2006) Gene expression patterns in human placenta. |
42. |
Yanagi Y et al. (2006) Measles virus: cellular receptors, tropism and pathogenesis. |
43. |
OMIM.ORG article Omim 120920 |
44. |
Orphanet article Orphanet ID 119259 |
45. |
NCBI article NCBI 4179 |
46. |
Wikipedia article Wikipedia EN (CD46) |