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CTSD cathepsin D

Gene ID: 1509, updated on 7-Oct-2018
Also known as: CPSD; CLN10; HEL-S-130P

Summary

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. [provided by RefSeq, Nov 2015]

Genomic context

Location:
11p15.5
Sequence:
Chromosome: 11; NC_000011.10 (1752752..1763992, complement)
Total number of exons:
9

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