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.
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