RBCC Red Blood Cell Collection

C1QC_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: C1QC , C1QG
Protein names and data: C1QC_HUMAN , Complement C1q subcomponent subunit C; Flags: Precursor Lenght: 245 a.a.
Mass: 25774 Da
fasta formatted sequence
Function: C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes.
Disease: ( OMIM: 120575 613652 ) Complement component C1q deficiency (C1QD) [MIM:613652]: A disorder caused by impaired activation of the complement classical pathway. It generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Secreted.

Genetic variants

34 - 34 G -> R (in C1QD). VAR_008542

Database cross-references

UniProt: P02747
Ensembl: ENST00000374637
Ensembl: ENST00000374639
Ensembl: ENST00000374640
MIM: 120575
MIM: 613652
neXtProt: NX_P02747
Antibodypedia: P02747 (may not find the protein thus also not any antibody)
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