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FLASH GENE

Symbol

PRNP

contributors: mct/shn - updated : 26-12-2013

HGNC name	prion protein
HGNC id	9449

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CJD , GSSS , IDTF , HDL1 , EOD

related resource

Prion Protein/CJD database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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

Susceptibility

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
Marker
Therapy target
	System Type Disorder Pubmed cancer digestive colon target for anticancer therapy

ANIMAL & CELL MODELS

	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