CTSC, Official Symbol CTSCprovided by HGNC Official Full Name cathepsin Cprovided by HGNC Primary source HGNC:HGNC:2528 See related Ensembl:ENSG00000109861 MIM:602365; AllianceGenome:HGNC:2528 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as JP; HMS; JPD; PLS; CPPI; DPP1; DPPI; PALS; DPP-I; PDON1 Summary 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] Expression Broad expression in placenta (RPKM 28.5), lung (RPKM 26.8) and 24 other tissues See more Orthologs mouse all