Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The C1QB gene encodes a component of complement C1q which along with C1r and C1s binds to antibody complexes and by that constitutes the first component of the classical complement activation pathway. Autosomal recessive deficiencies of C1q are associated with lupus erythematosus and glomerulonephritis.
6 B chains complement component C1q add to the total of 18 components of the bouquet-of-flowers-like heteromultimeric macromolecule C1q.
The three proteins A, B, and C that compose the heteromultimere C1q are mostly of extrahepatic origin. They are synthesized by immature dendritic cells, monocytes, and macrophages. The mature protein is able to bind several sproteins and to initiate the classical pathway of complement activation. Such proteins include most importantly IgG- and IgM-containing immuncomplexes and several foreign proteins on pathogens and apoptotic cells.
| 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 | 25 days | |
| Specimen type | genomic DNA |
 |
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues |
