Entrez gene ID | | 727 |
Official gene symbol | | C5 |
Full name | | complement component 5 |
Aliases | | ,CPAMD4,FLJ17816,FLJ17822,MGC142298, |
Gene summary | | The protein encoded by this gene is the fifth component of complement, which plays an important role in inflammatory and cell killing processes. This protein is comprised of alpha and beta polypeptide chains that are linked by a disulfide bridge. An activation peptide, C5a, which is an anaphylatoxin that possesses potent spasmogenic and chemotactic activity, is derived from the alpha polypeptide via cleavage with a convertase. The C5b macromolecular cleavage product can form a complex with the C6 complement component, and this complex is the basis for formation of the membrane attack complex, which includes additional complement components. Mutations in this gene cause complement component 5 deficiency, a disease where patients show a propensity for severe recurrent infections. Defects in this gene have also been linked to a susceptibility to liver fibrosis and to rheumatoid arthritis. [provided by RefSeq] |
Location | | Chromosome: 9 Locus: 9q33-q34 |
Gene position | | 123812554 - 123714613 Map Viewer |
Gene orientation | | minus |
Gene size | | 97942 bp |
Gene sequence |
| |
OMIM ID | | 120900 |
|