Aliases for CTSC Gene
External Ids for CTSC Gene
Previous HGNC Symbols for CTSC Gene
Previous GeneCards Identifiers for CTSC Gene
The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in immune/inflammatory cells. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor, and a residual portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for CTSC Gene
CTSC (Cathepsin C) is a Protein Coding gene. Diseases associated with CTSC include papillon-lefevre syndrome and haim-munk syndrome. Among its related pathways are Class I MHC mediated antigen processing and presentation and Lysosome. GO annotations related to this gene include identical protein binding and cysteine-type peptidase activity. An important paralog of this gene is CTSW.
UniProtKB/Swiss-Prot for CTSC Gene
Thiol protease. Has dipeptidylpeptidase activity. Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids. Proline cannot occupy the P1 position and arginine cannot occupy the P2 position of the substrate. Can act as both an exopeptidase and endopeptidase. Activates serine proteases such as elastase, cathepsin G and granzymes A and B. Can also activate neuraminidase and factor XIII.