Aliases for CTSC Gene
External Ids for CTSC Gene
Previous HGNC Symbols for CTSC Gene
Previous GeneCards Identifiers for CTSC Gene
This gene encodes a member of the peptidase C1 family and lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in cells of the immune system. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate heavy and light chains that form a disulfide-linked dimer. A 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. [provided by RefSeq, Nov 2015]
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 Metabolism of proteins and Innate Immune System. Gene Ontology (GO) annotations related to this gene include identical protein binding and cysteine-type peptidase activity. An important paralog of this gene is TINAGL1.
UniProtKB/Swiss-Prot Summary 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.