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 Innate Immune System and Complement Pathway. 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 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.