Full name: cathepsin C

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: CPPI; DPP-I; DPP1; DPPI; HMS; JP; JPD; PALS; PDON1; PLS

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

Gene size: 44145bp

Exon count: 9