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 |
1. |
et al. () //// |
2. |
Topaloglu R et al. (1996) Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family. |
3. |
Lindenbaum RH et al. (1979) Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. |
4. |
Sellar GC et al. (1992) Localization of the gene cluster encoding the A, B, and C chains of human C1q to 1p34.1-1p36.3. |
5. |
Sellar GC et al. (1991) Characterization and organization of the genes encoding the A-, B- and C-chains of human complement subcomponent C1q. The complete derived amino acid sequence of human C1q. |
6. |
Boyd Y et al. (1988) Mapping of 12 translocation breakpoints in the Xp21 region with respect to the locus for Duchenne muscular dystrophy. |
7. |
McAdam RA et al. (1988) A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual. |
8. |
Hannema AJ et al. (1984) SLE like syndrome and functional deficiency of C1q in members of a large family. |
9. |
Thompson RA et al. (1980) A genetic defect of the C1q subcomponent of complement associated with childhood (immune complex) nephritis. |
10. |
NCBI article NCBI 713 |
11. |
OMIM.ORG article Omim 120570 |
12. |
Orphanet article Orphanet ID 221166 |
13. |
Wikipedia article Wikipedia EN (Complement_component_1q) |