C1R, Official Symbol C1Rprovided by HGNC Official Full Name complement C1rprovided by HGNC Primary source HGNC:HGNC:1246 See related Ensembl:ENSG00000159403 MIM:613785; AllianceGenome:HGNC:1246 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EDS8; EDSPD1 Summary This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018] Expression Broad expression in liver (RPKM 563.3), gall bladder (RPKM 285.8) and 20 other tissues See more Orthologs all