C1QC complement C1q C chain
Gene ID: 714, updated on 18-Sep-2024Gene type: protein coding
Also known as: C1QG; C1Q-C; C1QD3
- See all available tests in GTR for this gene
- Go to complete Gene record for C1QC
- Go to Variation Viewer for C1QC variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
C1Q deficiency 3 | See labs |
Genomic context
- Location:
- 1p36.12
- Sequence:
- Chromosome: 1; NC_000001.11 (22643633..22648108)
- Total number of exons:
- 3
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for C1QC variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- C1QCbase: Mutation registry for C1q gamma-polypeptide deficiency
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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