CTSC encodes cathepsin C (463 aa). Thiol protease. Has dipeptidylpeptidase activity. Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids. Highest expression in Cells Cultured fibroblasts (104.9 TPM) and Lung (61.5 TPM).

Papillon-Lefevre disease is associated with mutations in the CTSC gene on chromosome 11.

The CTSC protein participates in LMAN family proteins bind glycosylated cargo pathway.

CTSC is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 7.5.

Genetic testing for CTSC is available. Testing is considered confirmatory for diagnosis.

Estimated prevalence: 1-9 in 1,000,000 (Rare).

No clinical trials have been registered for Papillon-Lefevre disease.

27 publications have been identified in PubMed for Papillon-Lefevre disease. Research spans Case Report / Case Series (48%), Review / Meta-Analysis (19%), and Basic Science / Preclinical (19%).

Recent Publications

• Assas M (2026). [PMID: 41914522](https://pubmed.ncbi.nlm.nih.gov/41914522/). *Spec Care Dentist*. [Review / Meta-Analysis]

• El-Hawary H (2026). [PMID: 41971476](https://pubmed.ncbi.nlm.nih.gov/41971476/). *J Maxillofac Oral Surg*. [Case Report / Case Series]

• Alibrahim L (2026). [PMID: 41755622](https://pubmed.ncbi.nlm.nih.gov/41755622/). *Dermatology reports*. [Case Report / Case Series]

• Grotra R (2026). [PMID: 40966759](https://pubmed.ncbi.nlm.nih.gov/40966759/). *The Pediatric infectious disease journal*. [Case Report / Case Series]

• Jaddoua Q (2026). [PMID: 42000349](https://pubmed.ncbi.nlm.nih.gov/42000349/). *Curr Probl Surg*. [Case Report / Case Series]

• Shiraz ZK (2025). [PMID: 40236306](https://pubmed.ncbi.nlm.nih.gov/40236306/). *Clinical case reports*. [Gene Therapy / Novel Therapeutics]

• Astolfi-Labrador L (2025). [PMID: 41462866](https://pubmed.ncbi.nlm.nih.gov/41462866/). *Biomedicines*. [Review / Meta-Analysis]

• Zhang D (2025). [PMID: 40918524](https://pubmed.ncbi.nlm.nih.gov/40918524/). *Frontiers in pharmacology*. [Review / Meta-Analysis]

• Alrubaiaan M (2025). [PMID: 41133531](https://pubmed.ncbi.nlm.nih.gov/41133531/). *Reports (MDPI)*. [Case Report / Case Series]

• Li J (2025). [PMID: 40632515](https://pubmed.ncbi.nlm.nih.gov/40632515/). *JAMA dermatology*. [Gene Therapy / Novel Therapeutics]