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Gene : CTSC Homo sapiens

Name  ? cathepsin C Cytological Location  11q14.2
Brief Description  cathepsin C
Description  This gene encodes a member of the peptidase C1 family and lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in cells of the immune system. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate heavy and light chains that form a disulfide-linked dimer. A portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. [provided by RefSeq, Nov 2015]
  • synonyms:
  • uc001pck.5,
  • NM_001814,
  • PLS,
  • HMS,
  • JPD,
  • DPP1,
  • HGNC:2528,
  • DPPI,
  • PALS,
  • PDON1,
  • dipeptidyl peptidase 1,
  • DPP1,
  • PALS,
  • CPPI,
  • JP,
  • AK223038,
  • CTSC,
  • OTTHUMG00000167290,
  • PLS,
  • DPP-I
  • identifiers:
  • 1075,
  • ENSG00000109861,
  • CTSC

Genome feature

Region: gene ? Length: 44145  
Location: 11:88293592-88337736 reverse strand Cyto location: 11q14.2

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3 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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3740 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results