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Symbol PRNP contributors: mct/shn - updated : 26-12-2013
HGNC name prion protein
HGNC id 9449
corresponding disease(s) CJD , GSSS , IDTF , HDL1 , EOD
related resource Prion Protein/CJD database
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
by misfolded prion protein in sudden infant death syndrome (SIDS)
constitutional     --over  
in ischemic brain damage
tumoral     --over  
in gastric cancer tissues (ectopic expression of PRNP could promote tumorigenesis, proliferation, and G1/S transition in gastric cancer cells)
constitutional     --other  
altered expression levels may play an important role in susceptibility to infection
tumoral     --over  
may constitute a prognostic marker for colorectal cancerrecurrence
  • for Creutzfeldt-Jakob disease
  • to fatal familial insomnia
  • to Alzheimer disease-like tau disease
  • Variant & Polymorphism SNP
  • strong susceptibility factor for PRNP disease (sporadic CJD)
  • SNP M129V increasing the risk of Creutzfeldt-Jakob disease
  • SNP M129M or M129V increasing the long-term memory, and associated to a fatal familial insomnia
  • rare PRNP mutation (Q160X) that resulted in the production of truncated PRNP, associated to Alzheimer disease-like tau disease
  • Candidate gene
    Therapy target
    target for anticancer therapy
  • mice expressing DeltaPrP or Dpl suffer from widespread leukoencephalopathy
  • mouse expressing the PrP(DeltaCD), a PrP variant lacking 40 central residues, displays a rapidly progressive, lethal phenotype with extensive central and peripheral myelin degeneration
  • ablation of the prion protein PrP(C) triggers a chronic demyelinating polyneuropathy in four independently targeted mouse strains
  • absence of PrPC in a transgenic Alzheimer mouse rescues deficits in spatial learning and memory
  • Knockdown PRNP homolog in the zebrafish leads to a dose-dependent phenotype characterized by systemic morphological defects, reduced cell adhesion and CNS cell death