CTSD encodes cathepsin D (412 aa). Acid protease active in intracellular protein breakdown. Plays a role in APP processing following cleavage and activation by ADAM30 which leads to APP degradation. Highest expression in Adrenal Gland (1,571 TPM) and Artery Aorta (1,229 TPM).

Neuronal ceroid lipofuscinosis 10 is associated with mutations in the CTSD gene on chromosome 11.

CTSD is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 26.1.

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

Phenotype severity distribution: 8 always present features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

7 publications have been identified in PubMed for neuronal ceroid lipofuscinosis 10. Kisho has analyzed 5 by research type. Research spans Basic Science / Preclinical (60%), Other (20%), and Review / Meta-Analysis (20%).

Recent Publications

• Balta D (2025). [PMID: 40883786](https://pubmed.ncbi.nlm.nih.gov/40883786/). *Mol Neurodegener*. [Basic Science / Preclinical]

• Nicolaou P (2024). [PMID: 38988832](https://pubmed.ncbi.nlm.nih.gov/38988832/). *Front Genet*. [Other]

• Schneider J (2024). [PMID: 38552867](https://pubmed.ncbi.nlm.nih.gov/38552867/). *Biochimie*. [Basic Science / Preclinical]

• Çiçek S (2024). [PMID: 39656415](https://pubmed.ncbi.nlm.nih.gov/39656415/). *Cerebellum*. [Review / Meta-Analysis]

• Shiro Y (2024). [PMID: 39032464](https://pubmed.ncbi.nlm.nih.gov/39032464/). *Mol Genet Metab*. [Basic Science / Preclinical]