The C1QC 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 C 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. |
Lindenbaum RH et al. (1979) Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. |
2. |
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. |
3. |
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. |
4. |
Boyd Y et al. (1988) Mapping of 12 translocation breakpoints in the Xp21 region with respect to the locus for Duchenne muscular dystrophy. |
5. |
Diebolder CA et al. (2014) Complement is activated by IgG hexamers assembled at the cell surface. |
6. |
Slingsby JH et al. (1996) Homozygous hereditary C1q deficiency and systemic lupus erythematosus. A new family and the molecular basis of C1q deficiency in three families. |
7. |
Kirschfink M et al. (1993) Complete functional C1q deficiency associated with systemic lupus erythematosus (SLE). |
8. |
Orphanet article Orphanet ID 221168 |
9. |
NCBI article NCBI 714 |
10. |
OMIM.ORG article Omim 120575 |
11. |
Wikipedia article Wikipedia EN (Complement_component_1q) |