C1QC Chromosome 1
Complement C1q C chain
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What This Gene Does
This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. 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. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
"Complement system activation components|C1q domain containing"
Locus Type
gene with protein product
Location
1p36.12
Ensembl
ENSG00000159189
Associated Conditions (2)
Inborn genetic diseases
C1Q deficiency
Key Variants
RS147904988
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1557603993
Conflicting classifications of pathogenicity
C1Q deficiency, C1Q deficiency
Health Risk
RS367838299
Conflicting classifications of pathogenicity
C1Q deficiency, C1Q deficiency
Health Risk
RS776530672
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200206736
Pathogenic
C1Q deficiency, C1Q deficiency
Health Risk
RS377549148
Pathogenic
C1Q deficiency, C1Q deficiency
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147904988 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1557603993 | Health Risk | Conflicting classifications of pathogenicity | C1Q deficiency, C1Q deficiency |
| RS367838299 | Health Risk | Conflicting classifications of pathogenicity | C1Q deficiency, C1Q deficiency |
| RS776530672 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200206736 | Health Risk | Pathogenic | C1Q deficiency, C1Q deficiency |
| RS377549148 | Health Risk | Pathogenic | C1Q deficiency, C1Q deficiency |