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Gene : CTSK Homo sapiens

Name  ? cathepsin K Cytological Location  1q21.3
Brief Description  cathepsin K
Description  The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is also expressed in a significant fraction of human breast cancers, where it could contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and short stature. [provided by RefSeq, Apr 2013]
  • synonyms:
  • PYCD,
  • NM_000396,
  • CTSO1,
  • OTTHUMG00000035008,
  • HGNC:2536,
  • cathepsin K (pycnodysostosis),
  • CTS02,
  • CTSO,
  • PYCD,
  • uc001evp.3,
  • CTSO,
  • PKND,
  • PKND,
  • CTSO2,
  • BC016058,
  • CTSO2,
  • CTSK
  • identifiers:
  • 1513,
  • ENSG00000143387,
  • CTSK

Genome feature

Region: gene ? Length: 12053  
Location: 1:150796208-150808260 reverse strand Cyto location: 1q21.3

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Gene -> HPO annotation (Human Phenotype Ontology)

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3740 SN Ps

5 Cross References

17 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results