Cathepsin D ist ein Gen, das durch das Symbol CTSD kodiert wird. Andere Namen sind: CTSD; CPSD. Cathepsin D hat eine Masse von 44.55kDa, eine Aminosäurelänge von 412, und ist an Ceroid lipofuscinosis, neuronal, 10 beteiligt.
Wir bieten 19 antikörper gegen Cathepsin D, aufgewachsen in Kaninchen, Maus und Ziege, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus, Ratte, Affe und Hund.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease.
Gewebespezifität
Expressed in the aorta extracellular space (at protein level) (PubMed:20551380). Expressed in liver (at protein level) (PubMed:1426530).
Rolle bei Krankheiten
Ceroid lipofuscinosis, neuronal, 10: 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.
Sequenzähnlichkeiten
Belongs to the peptidase A1 family.
Posttranslationale Modifikation
N- and O-glycosylated.
Zellort
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).
