Aliases for C1S Gene
External Ids for C1S Gene
Previous GeneCards Identifiers for C1S Gene
This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]
GeneCards Summary for C1S Gene
C1S (Complement C1s) is a Protein Coding gene. Diseases associated with C1S include Ehlers-Danlos Syndrome, Periodontal Type, 2 and Periodontal Ehlers-Danlos Syndrome. Among its related pathways are Complement Pathway and Staphylococcus aureus infection. GO annotations related to this gene include calcium ion binding and serine-type endopeptidase activity. An important paralog of this gene is MASP1.
UniProtKB/Swiss-Prot for C1S Gene
C1s B chain is a serine protease that combines with C1q and C1r to form C1, the first component of the classical pathway of the complement system. C1r activates C1s so that it can, in turn, activate C2 and C4.