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 ?
4,5 More than 90% reduction in cathepsin C gene activity has been reported in PLS patients.
All PLS patients are homozygous for the cathepsin-C mutations while as parents and siblings, who are heterozygous for cathepsin C mutations do not show either the palmoplantar hyperkeratosis or severe early onset periodontitis characteristic of PLS.
Haim Munk Syndrome (HMS) is an extremely rare autosomal recessive disorder with the allelic mutation of exon 6 codon in cathepsin C gene.
Although both HMS and PLS share the common pathogenomic features of PPK and severe periodontitis6,7 and are allelic variants of cathepsin C gene mutations6,8, a number of additional findings are reported in HMS including onychogryphosis (curved nails), arachnodactyly (spider fingers/ elongated and slender shaped fingers and toes), acro-osteolysis (tappered pointed distal phalangeal ends due to osteolysis), pes planus (flat foot), occasionally hyperkeratotic psorisiform lesions with an erythematous background on the extensor surfaces of elbows and knees9,10,11,12 and rarely destructive arthritis of the wrists and shoulder joints.
Cathepsin C involvement in the etiology of Papillon-Lefevre syndrome
The cathepsin C gene encodes a cysteine-lysosomal protease also known as dipeptidyl-peptidase /, which functions to remove dipeptides from the amino terminus of the protein substrate.
The genetic defect is lack-of-function mutations of the gene encoding for cathepsin C, a lysosomal cysteine proteinase.
Key words: Papillon-Lefevre syndrome, dental treatment, cathepsin C
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.
Tied to a complex web of immunological reactions, cathepsin C is the enzyme responsible for fighting and eliminating infections in the mouth.
They find that individuals with Papillon-Lefevre syndrome have a mutation on chromosome 11 at the site of the gene, called CTSC, that encodes cathepsin C.