Gene Symbol: CTSC
Gene Name: Cathepsin C
Chromosomal Location: 10q22.1
Aliases: DPP1, DPP-I, JPD, PRS
Cathepsin C (CTSC), also known as dipeptidyl peptidase I (DPP1), is a lysosomal cysteine protease that plays crucial roles in protein degradation and activation of serine proteases. It is highly expressed in immune cells and has been implicated in various neurodegenerative diseases through its involvement in neuroinflammation and protein aggregation[1].
CTSC encodes a cysteine cathepsin that functions as a dipeptidyl peptidase. The enzyme is synthesized as a inactive zymogen and undergoes proteolytic processing to become active. Its primary functions include:
In Alzheimer's disease, CTSC has been linked to amyloid-beta processing and neuroinflammation. Studies have shown elevated CTSC expression in AD brain tissue, particularly in microglia surrounding amyloid plaques[3]. The enzyme may contribute to:
In Parkinson's disease, CTSC expression is increased in substantia nigra dopaminergic neurons and in microglia. The enzyme may contribute to:
CTSC has also been implicated in:
CTSC is expressed in various cell types:
| Cell Type | Expression Level | Notes |
|---|---|---|
| Microglia | High | Elevated in neurodegeneration |
| Astrocytes | Moderate | Increased in reactive astrocytes |
| Neurons | Low | Constitutive expression |
| Oligodendrocytes | Low | May increase in disease states |
CTSC inhibitors have been explored as potential therapeutic agents:
CTSC levels in cerebrospinal fluid and blood have been investigated as potential biomarkers for:
CTSC interacts with:
CTSC gene polymorphisms have been associated with:
Rare CTSC mutations cause Papillon-Lefèvre syndrome, characterized by palmoplantar hyperkeratosis and severe periodontitis, but no direct link to neurodegeneration has been established.
Cardona et al. Cathepsin C in neurodegenerative disease. Journal of Neurochemistry. 2023. ↩︎
Korkmaz et al. Cathepsin C: structure, function, and therapeutic potential. Biological Chemistry. 2022. ↩︎
Zhao et al. Elevated cathepsin C expression in Alzheimer's disease brain. Neurobiology of Aging. 2021. ↩︎
Kim et al. Cathepsin C and Parkinson's disease: a potential link. Movement Disorders. 2022. ↩︎