C9 complement C9
Gene ID: 735, updated on 28-Oct-2024Gene type: protein coding
Also known as: C9D; ARMD15
- See all available tests in GTR for this gene
- Go to complete Gene record for C9
- Go to Variation Viewer for C9 variants
Summary
This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Age related macular degeneration 15 | See labs |
| Complement component 9 deficiency | See labs |
| New loci associated with kidney function and chronic kidney disease. GeneReviews: Not available |
Genomic context
- Location:
- 5p13.1
- Sequence:
- Chromosome: 5; NC_000005.10 (39284140..39364495, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for C9 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- C9 database
- C9base: Mutation registry for C9 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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