Catalytic activity:Specificity similar to , but narrower than , that of pepsin A. Does not cleave the 4-Gln-|-His-5 bond in B chain of insulin. ,Disease:Defects in CTSD are the cause of neuronal ceroid lipofuscinosis 10 (CLN10) [MIM:610127]; also known as neuronal ceroid lipofuscinosis due to cathepsin D deficiency. The neuronal ceroid lipofuscinosis are a group of progressive neurodegenerative diseases in children and in adults , characterized by visual and mental decline , motor disturbance , epilepsy and behavioral changes. ,Function:Acid protease active in intracellular protein breakdown. Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease. ,polymorphism:The Val-58 allele is significantly overrepresented in demented patients (11.8%) compared with non-demented controls (4.9%) . Carriers of the Val-58 allele have a 3.1-fold increased risk for developing AD than non-carriers. ,similarity:Belongs to the peptidase A1 family. ,subcellular location:Identified by mass spectrometry in melanosome fractions from stage I to stage IV. ,subunit:Consists of a light chain and a heavy chain. ,
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