C1QA complement C1q A chain
Gene ID: 712, updated on 17-Jun-2024Gene type: protein coding
Also known as: C1QD1
- See all available tests in GTR for this gene
- Go to complete Gene record for C1QA
- Go to Variation Viewer for C1QA variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| C1Q deficiency 1 | not available |
Genomic context
- Location:
- 1p36.12
- Sequence:
- Chromosome: 1; NC_000001.11 (22636463..22639678)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for C1QA variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- C1QAbase: Mutation registry for C1qA 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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