Gene: C3

Alternate names for this Gene: AHUS5|ARMD9|ASP|C3a|C3b|CPAMD1|HEL-S-62p

Gene Summary: Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.3

Description of this Gene: complement C3

Type of Gene: protein-coding

rs147859257 in C3 gene and Age related macular degeneration PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

PMID 20385819 2010 Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.

PMID 21665990 2011 Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.

PMID 23455636 2013 Seven new loci associated with age-related macular degeneration.

PMID 22705344 2012 Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.

PMID 20861866 2010 Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.

PMID 29346644 2018 Genome-wide analysis of disease progression in age-related macular degeneration.

PMID 20385826 2010 Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).

rs11569479 in C3 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs3745567 in C3 gene and C4 complement assay (procedure) PMID 23028341 2012 Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.

rs1449441916 in C3 gene and COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE PMID 7961791 1994 Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion.

rs3745567 in C3 gene and Complement C3 Measurement PMID 23028341 2012 Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.

rs147859257 in C3 gene and Exudative age-related macular degeneration PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

PMID 22705344 2012 Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.

rs147859257 in C3 gene and Geographic Atrophy PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

PMID 22705344 2012 Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.

rs121909583 in C3 gene and HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 PMID 19846853 2009 Atypical hemolytic-uremic syndrome.

PMID 18796626 2008 Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.

PMID 19821824 2010 Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom.

PMID 20513133 2010 Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.

rs11569440 in C3 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs147859257 in C3 gene and exudative macular degeneration PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

PMID 22705344 2012 Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.