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Gene : CTSD Homo sapiens

Name  ? cathepsin D Cytological Location  11p15.5
Brief Description  cathepsin D
Description  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]
  • synonyms:
  • OTTHUMG00000044760,
  • M11233,
  • uc001luc.2,
  • ceroid-lipofuscinosis, neuronal 10,
  • cathepsin D (lysosomal aspartyl protease),
  • CPSD,
  • HEL-S-130P,
  • HGNC:2529,
  • NM_001909,
  • CTSD,
  • CLN10,
  • CPSD,
  • CLN10
  • identifiers:
  • 1509,
  • ENSG00000117984,
  • CTSD

Genome feature

Region: gene ? Length: 11173  
Location: 11:1752755-1763927 reverse strand Cyto location: 11p15.5


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Disease

1 Diseases

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307 SN Ps

5 Cross References

19 Data Sets

26 Homologues

0 Located Features

97 Rna Seq Results