CTSC

Also known as CPPI, DPP-I, DPP1, DPPI, HMS, JP, JPD, PALS

protein-coding gene in the species Homo sapiens

Gene data

CTSC

Name: cathepsin C
Type: protein-coding
Position: 88,265,069–88,359,684 (−)
Aliases: CPPI, DPP-I, DPP1, DPPI, HMS, JP, JPD, PALS, PDON1, PLS
Ensembl: ENSG00000109861
RefSeq RNA: NM_001114173.3, NM_001814.6, NM_148170.5
RefSeq protein: NP_001107645.1, NP_001805.4, NP_680475.1

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].