C5
LOCUS ID727
GENE_SYMBOLC5
GENE NAMEcomplement component 5
SYNONYMNSC5D, C5a, C5b, ECLZB, CPAMD4
CHROMOSOME9
HOMOLOGENE ID20412
microRNAsNANA
GENE SUMMARY
This gene encodes a component of the complement system, a part of the inte 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 aphylatoxin 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 aphylatoxin, 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. Altertive splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. An analysis of the content of the complement components in 31 diabetic patients with diabetic nephropathy indicated a decrease in the levels of components C3 and C5 and an increase in the content of C4 (p less than 0.001) as compared to the normal.3474606
Retinopathy1. C5 rs2269067 GG genotype confers risk for PDR of T2D in Chinese han population and is associated with an elevated C5 mRNA expression and an increased IL-6 production. 2. C5-rs17611 was significantly associated with DR, particularly conferred to the PDR susceptibility; this functional variant also linked with certain clinical significance. 2. C5-rs17611 was significantly associated with DR, particularly conferred to the PDR susceptibility; this functional variant also linked with certain clinical significance.26934706, 26989329