C1QBP Chromosome 17
Complement C1q binding protein
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What This Gene Does
The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008]
Associated Conditions (2)
Combined oxidative phosphorylation deficiency 33
Mitochondrial disease
Key Variants
RS755568057
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation deficiency 33, Combined oxidative phosphorylation deficiency 33
Health Risk
RS779379127
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation deficiency 33, Combined oxidative phosphorylation deficiency 33
Health Risk
RS142149129
Likely pathogenic
Health Risk
RS1394499137
Pathogenic
Combined oxidative phosphorylation deficiency 33, Combined oxidative phosphorylation deficiency 33
Health Risk
RS1555532483
Pathogenic
Combined oxidative phosphorylation deficiency 33, Combined oxidative phosphorylation deficiency 33
Health Risk
RS1555532484
Pathogenic
Combined oxidative phosphorylation deficiency 33, Combined oxidative phosphorylation deficiency 33
Health Risk
RS2507765998
Pathogenic
Health Risk
RS2507770002
Pathogenic
Health Risk
RS746170176
Pathogenic
Health Risk
RS767427194
Pathogenic/Likely pathogenic
Combined oxidative phosphorylation deficiency 33, Mitochondrial disease, Combined oxidative phosphorylation deficiency 33
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS755568057 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation deficiency 33, Combined oxidative phosphorylation deficiency 33 |
| RS779379127 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation deficiency 33, Combined oxidative phosphorylation deficiency 33 |
| RS142149129 | Health Risk | Likely pathogenic | — |
| RS1394499137 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 33, Combined oxidative phosphorylation deficiency 33 |
| RS1555532483 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 33, Combined oxidative phosphorylation deficiency 33 |
| RS1555532484 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 33, Combined oxidative phosphorylation deficiency 33 |
| RS2507765998 | Health Risk | Pathogenic | — |
| RS2507770002 | Health Risk | Pathogenic | — |
| RS746170176 | Health Risk | Pathogenic | — |
| RS767427194 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation deficiency 33, Mitochondrial disease, Combined oxidative phosphorylation deficiency 33 |