CTSC

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CTSC

A gene on chromosome 11q14.2 that encodes cathepsin C, a ubiquitous lysosomal cysteine proteinase that co-ordinates activation of various serine proteinases (e.g., elastase, cathepsin G and granzymes A and B); it also activates neuraminidase and factor XIII. CTSC is highly expressed in the lungs, kidneys and placenta.

Molecular pathology
Defects in CTSC cause Papillon-Lefèvre syndrome, Haim-Munk syndrome and aggressive periodontititis type 1.
References in periodicals archive ?
Late-onset Papillon-Lefevre syndrome without alteration of the cathepsin C gene.
Papillon-Lefevre syndrome: mutations and polymorphisms in the cathepsin C gene.
A family with Papillon-Lefevre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity.
Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefevre syndrome.
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.
It reports how scientists carried out some detailed detective work before blaming gum disease on a gene for the enzyme cathepsin C.
Cathepsin C, which is found in skin and bone cells, triggers several of the chemicals which control the body's immune responses.
Doctors say this suggests normal functioning of the cathepsin C gene is needed for healthy gums.
While the full role of this protein remains unknown, the findings establish that an abundance of properly functioning cathepsin C deters infection in the vulnerable spaces where teeth meet gums, says study coauthor Nalin S.
Although the parents of affected individuals have reduced cathepsin C activity, none have severe gum disease, or periodontitis, Thakker says.
When bacteria lodge between the teeth and gums, many cells in the region make cathepsin C.
Thakker and his colleagues investigated cathepsin C because it's necessary for the normal function of neutrophils.