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PRNP - prion protein
- Synonym(s) : AltPrP, CD230, Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Strausler-Scheinker syndrome, p27-30, PRP
- Previous symbols and names : CJD, GSS, PRIP, prion protein (p27-30)
- Type : gene with protein product
- Chromosomal location : 20p13
- OMIM: 176640
- HGNC: 9449
- UniProtKB: P04156
- Genatlas: PRNP
- Ensembl: ENSG00000171867
- IUPHAR-DB: -
- Reactome: P04156
- LOVD: PRNP
Diseases list
- Disease-causing germline mutation(s) in Familial Alzheimer-like prion disease
ORPHA:280397 
- Disease-causing germline mutation(s) in Fatal familial insomnia
ORPHA:466 - Disease-causing germline mutation(s) in Gerstmann-Straussler-Scheinker syndrome
ORPHA:356 - Disease-causing germline mutation(s) in Huntington disease-like 1
ORPHA:157941 - Disease-causing germline mutation(s) in Inherited Creutzfeldt-Jakob disease
ORPHA:282166 - Disease-causing germline mutation(s) in PrP systemic amyloidosis
ORPHA:397606 - Major susceptibility factor in Kuru
ORPHA:454745
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
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