CTSC Chromosome 11
Cathepsin C
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What This Gene Does
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]
Gene Info
Gene Group
Cathepsins
Locus Type
gene with protein product
Location
11q14.2
Ensembl
ENSG00000109861
Associated Conditions (7)
Haim-Munk syndrome
Papillon-Lefèvre syndrome
Periodontitis
aggressive 1
Inborn genetic diseases
See cases
CTSC-related disorder
Key Variants
RS104894208
Conflicting classifications of pathogenicity
Haim-Munk syndrome, Papillon-Lefèvre syndrome, Periodontitis
Health Risk
RS1355697311
Conflicting classifications of pathogenicity
Papillon-Lefèvre syndrome, Haim-Munk syndrome, Periodontitis
Health Risk
RS1370319468
Conflicting classifications of pathogenicity
Haim-Munk syndrome, Papillon-Lefèvre syndrome, Periodontitis
Health Risk
RS1386551513
Conflicting classifications of pathogenicity
Periodontitis, aggressive 1, Papillon-Lefèvre syndrome
Health Risk
RS1422115423
Conflicting classifications of pathogenicity
Periodontitis, aggressive 1, Haim-Munk syndrome
Health Risk
RS142378484
Conflicting classifications of pathogenicity
Papillon-Lefèvre syndrome, Haim-Munk syndrome, Periodontitis
Health Risk
RS143736590
Conflicting classifications of pathogenicity
Haim-Munk syndrome, Papillon-Lefèvre syndrome, Periodontitis
Health Risk
RS145373075
Conflicting classifications of pathogenicity
Haim-Munk syndrome, Papillon-Lefèvre syndrome, Periodontitis
Health Risk
RS2496530112
Conflicting classifications of pathogenicity
Papillon-Lefèvre syndrome, Papillon-Lefèvre syndrome
Health Risk
RS370862961
Conflicting classifications of pathogenicity
Haim-Munk syndrome, Papillon-Lefèvre syndrome, Periodontitis
Health Risk
RS45539936
Conflicting classifications of pathogenicity
Papillon-Lefèvre syndrome, Haim-Munk syndrome, Periodontitis
Health Risk
RS575727793
Conflicting classifications of pathogenicity
Haim-Munk syndrome, Periodontitis, aggressive 1
Health Risk
All Variants (90)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2496532776 | Health Risk | Pathogenic | Periodontitis, aggressive 1, Papillon-Lefèvre syndrome |
| RS2496533083 | Health Risk | Pathogenic | Haim-Munk syndrome, Periodontitis, aggressive 1 |
| RS2496540442 | Health Risk | Pathogenic | Haim-Munk syndrome, Periodontitis, aggressive 1 |
| RS2496540540 | Health Risk | Pathogenic | Periodontitis, aggressive 1, Papillon-Lefèvre syndrome |
| RS2496540657 | Health Risk | Pathogenic | Haim-Munk syndrome, Papillon-Lefèvre syndrome, Periodontitis |
| RS2496555907 | Health Risk | Pathogenic | Papillon-Lefèvre syndrome, Papillon-Lefèvre syndrome |
| RS2496555992 | Health Risk | Pathogenic | Periodontitis, aggressive 1, Papillon-Lefèvre syndrome |
| RS2496556090 | Health Risk | Pathogenic | Papillon-Lefèvre syndrome, Haim-Munk syndrome, Periodontitis |
| RS2496556141 | Health Risk | Pathogenic | Periodontitis, aggressive 1, Haim-Munk syndrome |
| RS2496556146 | Health Risk | Pathogenic | Haim-Munk syndrome, Periodontitis, aggressive 1 |
| RS2496556240 | Health Risk | Pathogenic | Papillon-Lefèvre syndrome, Papillon-Lefèvre syndrome |
| RS2496561928 | Health Risk | Pathogenic | Periodontitis, aggressive 1, Haim-Munk syndrome |
| RS2496562015 | Health Risk | Pathogenic | Haim-Munk syndrome, Periodontitis, aggressive 1 |
| RS2496562331 | Health Risk | Pathogenic | Periodontitis, aggressive 1, Papillon-Lefèvre syndrome |
| RS2496619764 | Health Risk | Pathogenic | Periodontitis, aggressive 1, Papillon-Lefèvre syndrome |
| RS2496620499 | Health Risk | Pathogenic | Periodontitis, aggressive 1, Papillon-Lefèvre syndrome |
| RS2496632149 | Health Risk | Pathogenic | Periodontitis, aggressive 1, Haim-Munk syndrome |
| RS28937571 | Health Risk | Pathogenic | Periodontitis, aggressive 1, Periodontitis |
| RS587776654 | Health Risk | Pathogenic | Papillon-Lefèvre syndrome, Papillon-Lefèvre syndrome |
| RS587776655 | Health Risk | Pathogenic | Papillon-Lefèvre syndrome, Haim-Munk syndrome, Periodontitis |
| RS587777532 | Health Risk | Pathogenic | Papillon-Lefèvre syndrome, Papillon-Lefèvre syndrome |
| RS587777533 | Health Risk | Pathogenic | Papillon-Lefèvre syndrome, Periodontitis, aggressive 1 |
| RS749103588 | Health Risk | Pathogenic | Periodontitis, aggressive 1, Haim-Munk syndrome |
| RS754779432 | Health Risk | Pathogenic | Periodontitis, aggressive 1, Haim-Munk syndrome |
| RS756656101 | Health Risk | Pathogenic | Haim-Munk syndrome, Periodontitis, aggressive 1 |
| RS758017974 | Health Risk | Pathogenic | Haim-Munk syndrome, Periodontitis, aggressive 1 |
| RS766114323 | Health Risk | Pathogenic | Haim-Munk syndrome, Papillon-Lefèvre syndrome, Periodontitis |
| RS772132996 | Health Risk | Pathogenic | Haim-Munk syndrome, Periodontitis, aggressive 1 |
| RS775385114 | Health Risk | Pathogenic | Periodontitis, aggressive 1, Papillon-Lefèvre syndrome |
| RS778236403 | Health Risk | Pathogenic | Papillon-Lefèvre syndrome, Periodontitis, aggressive 1 |
| RS887942959 | Health Risk | Pathogenic | Periodontitis, aggressive 1, Haim-Munk syndrome |
| RS968172696 | Health Risk | Pathogenic | Periodontitis, aggressive 1, Haim-Munk syndrome |
| RS1044703733 | Health Risk | Pathogenic/Likely pathogenic | Periodontitis, aggressive 1, Haim-Munk syndrome |
| RS104894207 | Health Risk | Pathogenic/Likely pathogenic | Papillon-Lefèvre syndrome, Periodontitis, aggressive 1 |
| RS104894214 | Health Risk | Pathogenic/Likely pathogenic | Papillon-Lefèvre syndrome, Haim-Munk syndrome, Periodontitis |
| RS1409888746 | Health Risk | Pathogenic/Likely pathogenic | Periodontitis, aggressive 1, Haim-Munk syndrome |
| RS199474831 | Health Risk | Pathogenic/Likely pathogenic | Haim-Munk syndrome, Periodontitis, aggressive 1 |
| RS34876841 | Health Risk | Pathogenic/Likely pathogenic | Haim-Munk syndrome, Papillon-Lefèvre syndrome, Periodontitis |
| RS587777534 | Health Risk | Pathogenic/Likely pathogenic | Periodontitis, aggressive 1, Papillon-Lefèvre syndrome |
| RS766504984 | Health Risk | Pathogenic/Likely pathogenic | Papillon-Lefèvre syndrome, Periodontitis, aggressive 1 |