CTSC

CTSC (Cathepsin C) is a Protein Coding gene. Diseases associated with CTSC include Papillon-Lefevre Syndrome and Haim-Munk Syndrome. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include identical protein binding and cysteine-type peptidase activity. An important paralog of this gene is TINAG.

Cathepsin C

Thiol protease. Has dipeptidylpeptidase activity. Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids. Proline cannot occupy the P1 position and arginine cannot occupy the P2 position of the substrate. Can act as both an exopeptidase and endopeptidase. Activates serine proteases such as elastase, cathepsin G and granzymes A and B. Can also activate neuraminidase and factor XIII.

Aging Source: Ensembl
COPII vesicle coating Source: Reactome
Endoplasmic reticulum to Golgi vesicle-mediated transport Source: Reactome
Immune response Source: ProtInc
Negative regulation of myelination Source: Ensembl
Neutrophil degranulation Source: Reactome
Positive regulation of apoptotic signaling pathway Source: Ensembl
Positive regulation of microglial cell activation Source: Ensembl
Positive regulation of proteolysis involved in cellular protein catabolic process Source: ParkinsonsUK-UCL
Proteolysis Source: UniProtKB
Proteolysis involved in cellular protein catabolic process Source: GO_Central
Response to organic substance Source: Ensembl
T cell mediated cytotoxicity Source: Ensembl

Lysosome

Papillon-Lefevre syndrome (PLS):
An autosomal recessive disorder characterized by palmoplantar keratosis and severe periodontitis affecting deciduous and permanent dentitions and resulting in premature tooth loss. The palmoplantar keratotic phenotype vary from mild psoriasiform scaly skin to overt hyperkeratosis. Keratosis also affects other sites such as elbows and knees.
Haim-Munk syndrome (HMS):
An autosomal recessive disorder characterized by palmoplantar keratosis, onychogryphosis and periodontitis. Additional features are pes planus, arachnodactyly, and acroosteolysis.
Periodontititis, aggressive, 1 (AP1):
A disease characterized by severe and protracted gingival infections, generalized or localized, leading to tooth loss. Amounts of microbial deposits are generally inconsistent with the severity of periodontal tissue destruction and the progression of attachment and bone loss may be self arresting.

N-glycosylated. While glycosylation at Asn-53, Asn-119 and Asn-276 is mediated by STT3A-containing complexes, glycosylation at Asn-29 is mediated STT3B-containing complexes.
In approximately 50% of the complexes the exclusion domain is cleaved at position 58 or 61. The two parts of the exclusion domain are held together by a disulfide bond.