Aliases for C1R Gene
External Ids for C1R Gene
Previous GeneCards Identifiers for C1R Gene
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]
GeneCards Summary for C1R Gene
C1R (Complement C1r) is a Protein Coding gene. Diseases associated with C1R include Ehlers-Danlos Syndrome, Periodontal Type, 1 and Periodontal Ehlers-Danlos Syndrome. Among its related pathways are Complement and coagulation cascades and Creation of C4 and C2 activators. Gene Ontology (GO) annotations related to this gene include calcium ion binding and serine-type peptidase activity. An important paralog of this gene is C1S.
UniProtKB/Swiss-Prot Summary for C1R Gene
C1r B chain is a serine protease that combines with C1q and C1s to form C1, the first component of the classical pathway of the complement system.