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FLASH GENE
Symbol CTSE contributors: mct - updated : 01-06-2007
HGNC name cathepsin E
HGNC id 2530
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
inducing a lysosomal storage disorder showing the accumulation of lysosomal membrane sialoglycoproteins (LAMP1, LAMP2, SCARB2) and the elevation of lysosomal pH in macrophages
tumoral     --over  
in gastric and cervical adenocarcinomas, in lung adenocarcinomas and squamous cell carcinomas, and in pancreatic ductal adenocarcinomas (Zaidi 2008)
Susceptibility
Variant & Polymorphism
Candidate gene
  • potential marker for the inception and progression of intestinal cancers
  • Marker
    Therapy target
    ANIMAL & CELL MODELS