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Official Full Name: cathepsin D
Also known as: CPSD; CLN10; HEL-S-130P
This gene encodes a member of the peptidase A1 family. The encoded preproprotein undergoes proteolytic processing to generate a variety of protein products. These products include cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme has pepsin-like activity and plays a role in protein turnover and proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal lipoid browning-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease.