C5 complement C5
Gene ID: 727, updated on 8-Oct-2024Gene type: protein coding
Also known as: C5D; C5a; C5b; ECLZB; CPAMD4
- See all available tests in GTR for this gene
- Go to complete Gene record for C5
- Go to Variation Viewer for C5 variants
Summary
This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Complement component 5 deficiency | See labs |
| Eculizumab, poor response to | See labs |
| Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available | |
| Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. GeneReviews: Not available | |
| REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. GeneReviews: Not available |
Genomic context
- Location:
- 9q33.2
- Sequence:
- Chromosome: 9; NC_000009.12 (120952335..121074865, complement)
- Total number of exons:
- 43
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for C5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- C5 database
- C5base: Mutation registry for C5 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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