Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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 |
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