C1QA Chromosome 1
Complement C1q A chain
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What This Gene Does
This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Gene Info
Gene Group
"Complement system activation components|C1q domain containing"
Locus Type
gene with protein product
Location
1p36.12
Ensembl
ENSG00000173372
Associated Conditions (2)
C1Q deficiency 1
C1Q deficiency
Key Variants
RS1570073403
Likely pathogenic
C1Q deficiency 1, C1Q deficiency, C1Q deficiency 1
Health Risk
RS1642221044
Likely pathogenic
C1Q deficiency, C1Q deficiency
Health Risk
RS953707145
Likely pathogenic
Health Risk
RS121909581
Pathogenic
C1Q deficiency, C1Q deficiency
Health Risk
RS1414092978
Pathogenic
Health Risk
RS2522176508
Pathogenic
Health Risk
RS2522181340
Pathogenic
Health Risk
RS2522182323
Pathogenic
Health Risk
RS34139950
Pathogenic
C1Q deficiency, C1Q deficiency
Health Risk
RS781431506
Pathogenic
Health Risk
RS952339666
Pathogenic/Likely pathogenic
C1Q deficiency, C1Q deficiency
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1570073403 | Health Risk | Likely pathogenic | C1Q deficiency 1, C1Q deficiency, C1Q deficiency 1 |
| RS1642221044 | Health Risk | Likely pathogenic | C1Q deficiency, C1Q deficiency |
| RS953707145 | Health Risk | Likely pathogenic | — |
| RS121909581 | Health Risk | Pathogenic | C1Q deficiency, C1Q deficiency |
| RS1414092978 | Health Risk | Pathogenic | — |
| RS2522176508 | Health Risk | Pathogenic | — |
| RS2522181340 | Health Risk | Pathogenic | — |
| RS2522182323 | Health Risk | Pathogenic | — |
| RS34139950 | Health Risk | Pathogenic | C1Q deficiency, C1Q deficiency |
| RS781431506 | Health Risk | Pathogenic | — |
| RS952339666 | Health Risk | Pathogenic/Likely pathogenic | C1Q deficiency, C1Q deficiency |