CTSD

Function

Acid protease active in intracellular protein breakdown. Plays a role in APP processing following cleavage and activation by ADAM30 which leads to APP degradation (PubMed:27333034). Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease.

Involvement in disease

Ceroid lipofuscinosis, neuronal, 10

CLN10

A form of neuronal ceroid lipofuscinosis with onset at birth or early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

N- and O-glycosylated.

Undergoes proteolytic cleavage and activation by ADAM30.

As well as the major heavy chain which starts at Leu-169, 2 minor forms starting at Gly-170 and Gly-171 have been identified (PubMed:1426530). An additional form starting at Ala-168 has also been identified (PubMed:27333034).

Sequence similarities

Belongs to the peptidase A1 family.

Tissue specificity

Expressed in the aorta extracellular space (at protein level) (PubMed:20551380). Expressed in liver (at protein level) (PubMed:1426530).

Cellular localization

• Lysosome
• Melanosome
• Secreted
• Extracellular space
• Identified by mass spectrometry in melanosome fractions from stage I to stage IV. In aortic samples, detected as an extracellular protein loosely bound to the matrix (PubMed:20551380).

Alternative names

• Cathepsin D
• CPSD
• CTSD

Database links

• entrezGene:1509
• omim:116840
• swissprot:P07339

Target type

Proteins

Primary research area

Neuroscience

Other research areas

• Cardiovascular

Molecular weight

44552Da