CTSC Gene: Cathepsin C (Dipeptidyl Peptidase 1)
Key regulator of immune cell granule serine protease activation and associated with severe congenital disorders
Gene Information Card
| Symbol | CTSC |
|---|---|
| Full Name | Cathepsin C |
| Gene Type | protein-coding |
| Chromosomal Location | 11q14.2 |
| NCBI Gene ID | 1075 ncbi.nlm.nih.gov/gene/1075 |
| Ensembl ID | ENSG00000109861 |
| UniProt ID | P53634 |
| OMIM ID | 602365 |
| HGNC ID | 2528 |
| Aliases | DPPI, DPP1, CPO, JP, PLS, HMS, PALS |
Description
The CTSC gene encodes cathepsin C, also known as dipeptidyl peptidase I (DPPI). This lysosomal cysteine protease is a homotetramer that removes dipeptides from the N-terminus of proteins. It is essential for the activation of granule serine proteases in immune cells, including neutrophils, cytotoxic T lymphocytes, and natural killer cells. Mutations in CTSC cause Papillon-Lefèvre syndrome and Haim-Munk syndrome, characterized by severe periodontitis, palmoplantar keratoderma, and in some cases, pyogenic infections.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Papillon-Lefèvre syndrome | Loss-of-function mutations in CTSC impair activation of granule serine proteases (e.g., cathepsin G, elastase, proteinase 3), leading to defective neutrophil-mediated killing and severe periodontitis with palmoplantar keratoderma. | OMIM #245000; ClinVar |
| Haim-Munk syndrome | Similar loss-of-function mechanism as Papillon-Lefèvre syndrome, with additional features such as arachnodactyly, acro-osteolysis, and onychogryphosis. | OMIM #245010; ClinVar |
| Aggressive periodontitis | CTSC mutations are a major genetic cause of prepubertal periodontitis; reduced DPPI activity leads to impaired host defense against periodontal pathogens. | OMIM #170650; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | High |
| Lung | 8.2 | Medium |
| Spleen | 7.9 | Medium |
| Whole blood | 6.8 | Medium |
| Kidney | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HL-60 (promyeloblast) | 15.3 | High expression; model for neutrophil differentiation |
| K-562 (lymphoblast) | 9.7 | Medium expression |
| HeLa (cervical carcinoma) | 3.2 | Low expression |
| A549 (lung carcinoma) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.815G>C (p.Trp272Ser) | Missense | Common in Papillon-Lefèvre syndrome | Loss of enzymatic activity |
| c.748C>T (p.Arg250*) | Nonsense | Reported in Haim-Munk syndrome | Premature truncation, loss of function |
| c.1268G>A (p.Arg423Gln) | Missense | Rare | Reduced DPPI activity |
| c.901G>A (p.Gly301Arg) | Missense | Found in aggressive periodontitis | Impaired tetramerization and activity |
Mutation functional classification
Loss of Function (LOF)
Most CTSC mutations are loss-of-function, leading to reduced or absent DPPI activity, defective granule serine protease activation, and impaired immune cell function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CTSC.
Dominant Negative (DN)
No dominant-negative mutations have been described; CTSC mutations are typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Lysosome (KEGG: hsa04142)
• Immune system (Reactome: R-HSA-168256)
• Granzyme A pathway (Reactome: R-HSA-202430)
• Neutrophil degranulation (Reactome: R-HSA-6798695)
Protein Summary
Cathepsin C (DPPI) is a lysosomal cysteine protease composed of four identical subunits. It functions as a dipeptidyl peptidase, removing N-terminal dipeptides from protein substrates. In immune cells, it is critical for the activation of granule-associated serine proteases such as cathepsin G, neutrophil elastase, and proteinase 3. The enzyme is synthesized as an inactive zymogen and undergoes proteolytic processing to become active. Deficiency due to CTSC mutations leads to accumulation of inactive pro-proteases, resulting in impaired neutrophil bactericidal activity and the clinical features of Papillon-Lefèvre and Haim-Munk syndromes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTSC Knockout HEK293 Cell Line | EDJ-KQ3284 | Human | 1075 | Details Get a Quote |
| CTSC Knockout A-549 Cell Line | EDJ-KQ24848 | Human | 1075 | Details Get a Quote |
| CTSC Knockout HCT 116 Cell Line | EDJ-KQ24849 | Human | 1075 | Details Get a Quote |
| CTSC Knockout HeLa Cell Line | EDJ-KQ24850 | Human | 1075 | Details Get a Quote |
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