cathepsin-D (CTSD, CPSD)

Function

• acid protease active in intracellular protein breakdown
• specificity similar to, but narrower than, that of pepsin A
• does not cleave the 4-Gln-|-His-5 bond in B chain of insulin

Structure

• consists of a light chain & a heavy chain
• belongs to the peptidase A1 family

Compartment

lysosome, melanosome

Pathology

• defects in CTSD are the cause of neuronal ceroid lipofuscinosis 10
• potential role in pathogenesis of
  • breast cancer
  • Alzheimer disease

Polymorphism

• 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

Laboratory

• cathepsin D in serum/plasma
• cathepsin D in tissue

More general terms

• cathepsin
• aspartic proteinase; carboxyl acid protease

Database

• UniProt: http://www.uniprot.org/uniprot/P07339.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1509
• OMIM: https://mirror.omim.org/entry/116840
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1509