C6 complement C6
Gene ID: 729, updated on 3-Apr-2024Gene type: protein coding
- See all available tests in GTR for this gene
- Go to complete Gene record for C6
- Go to Variation Viewer for C6 variants
Summary
This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Complement component 6 deficiency | See labs |
| Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network. GeneReviews: Not available |
Genomic context
- Location:
- 5p13.1
- Sequence:
- Chromosome: 5; NC_000005.10 (41142116..41261469, complement)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for C6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- C6 database
- C6base: Mutation registry for C6 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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