Gene: PRNP

Alternate names for this Gene: ASCR|AltPrP|CD230|CJD|GSS|KURU|PRIP|PrP|PrP27-30|PrP33-35C|PrPc|p27-30

Gene Summary: The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 20

Location in Chromosome : 20p13

Description of this Gene: prion protein

Type of Gene: protein-coding

rs1799990 in PRNP gene and Creutzfeldt-Jakob disease PMID 19081515 2009 Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study.

PMID 7902693 1993 A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.

PMID 7913755 1994 Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease.

PMID 8461023 1993 Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 19927125 2010 Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.

PMID 1439789 1992 Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.

PMID 1975028 1990 Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia.

PMID 1671440 1991 New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.

PMID 10790216 2000 Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.

PMID 7906019 1994 Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene.

PMID 8909447 1996 Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.

PMID 10790216 2000 Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.

PMID 22137330 2012 Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.

PMID 14761942 2004 The effect of disease-associated mutations on the folding pathway of human prion protein.

PMID 23176099 2012 Spreading brain lesions in a familial Creutzfeldt-Jakob disease with V180I mutation over 4 years.

rs74315403 in PRNP gene and Fatal Familial Insomnia PMID 1439789 1992 Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.

PMID 1347910 1992 Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178.

PMID 19927125 2010 Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.

rs74315401 in PRNP gene and Gerstmann-Straussler-Scheinker Disease PMID 1439789 1992 Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.

PMID 1363810 1992 Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles.

PMID 11709001 2001 A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease.

PMID 10581485 1999 Novel PRNP sequence variant associated with familial encephalopathy.

PMID 2564168 1989 Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome.

PMID 7902972 1993 A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Sträussler-Scheinker disease.

PMID 19927125 2010 Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.

PMID 7699395 1994 A variant of Gerstmann-Sträussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study.

PMID 9786248 1998 Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity.

PMID 8797472 1996 Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease (PrP-P102L mutation).

PMID 7783876 1995 Gerstmann-Sträussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients.

rs28933385 in PRNP gene and HUNTINGTON DISEASE-LIKE 1 PMID 22072968 2011 Fatal prion disease in a mouse model of genetic E200K Creutzfeldt-Jakob disease.

PMID 20514992 2010 The first Chinese case of Creutzfeldt-Jakob disease with mutation of E200K in PRNP.

PMID 22318125 2012 Intraneuronal immunoreactivity for the prion protein distinguishes a subset of E200K genetic from sporadic Creutzfeldt-Jakob Disease.

PMID 23296137 2013 Teaching neuroimages: Pseudohypertrophic cerebral cortex in end-stage Creutzfeldt-Jakob disease.

PMID 27803826 2016 A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset.

PMID 9813003 1998 Familial mutations and the thermodynamic stability of the recombinant human prion protein.

PMID 25522698 2015 Familial Creutzfeldt-Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD.

PMID 20593190 2011 Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy.

PMID 15366237 2004 "[Creutzfeldt-Jakob encephalopathy with mutation E200K. Report of a ""sporadic"" case]."

PMID 22584955 2012 Codon 200 mutation of the prion gene: genotype-phenotype correlations.

PMID 11756597 2001 Inherited prion disease caused by the V210I mutation: transmission to transgenic mice.

PMID 20139714 2010 Fragment molecular orbital calculations reveal that the E200K mutation markedly alters local structural stability in the human prion protein.

PMID 11839833 2002 Insomnia associated with thalamic involvement in E200K Creutzfeldt-Jakob disease.

PMID 25064618 2014 A pilot study of a genetic CJD risk factor (E200K) in the general Slovak population.

PMID 17494694 2007 Defective retrotranslocation causes loss of anti-Bax function in human familial prion protein mutants.

PMID 23132868 2012 Disease-associated mutations in the prion protein impair laminin-induced process outgrowth and survival.

PMID 14967768 2004 When sporadic disease is not sporadic: the potential for genetic etiology.

PMID 2572450 1989 Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's syndrome.

PMID 21298055 2011 Familial CJD associated PrP mutants within transmembrane region induced Ctm-PrP retention in ER and triggered apoptosis by ER stress in SH-SY5Y cells.

PMID 10360778 1999 A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein.

PMID 23723004 2013 In silico analysis of prion protein mutants: a comparative study by molecular dynamics approach.

PMID 26791950 2016 Quantifying prion disease penetrance using large population control cohorts.

PMID 25959220 2015 Structural effects of multiple pathogenic mutations suggest a model for the initiation of misfolding of the prion protein.

PMID 16939293 2006 Early intermediate in human prion protein folding as evidenced by ultrarapid mixing experiments.

PMID 1363810 1992 Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles.

PMID 12372829 2002 Disease-associated F198S mutation increases the propensity of the recombinant prion protein for conformational conversion to scrapie-like form.

PMID 10079068 1999 Influence of amino acid substitutions related to inherited human prion diseases on the thermodynamic stability of the cellular prion protein.

PMID 20541558 2010 The unfolded state of the murine prion protein and properties of single-point mutants related to human prion diseases.

PMID 8939199 1996 Proteinase-K-resistant prion protein isoforms in Gerstmann-Sträussler-Scheinker disease (Indiana kindred).

PMID 1363809 1992 Linkage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein gene.

rs74315402 in PRNP gene and Movement Disorders PMID 9669700 1998 The prion diseases.

PMID 7902972 1993 A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Sträussler-Scheinker disease.

PMID 20216075 2010 The genetics of prion diseases.

PMID 15883322 2005 High incidence of genetic human transmissible spongiform encephalopathies in Italy.

PMID 8250529 1993 A new inherited prion disease (PrP-P105L mutation) showing spastic paraparesis.

PMID 7699395 1994 A variant of Gerstmann-Sträussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study.

PMID 16831973 2006 Childhood onset in familial prion disease with a novel mutation in the PRNP gene.

PMID 21911696 2011 Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene.

PMID 28987186 2017 Prion diseases.

PMID 16769939 2006 Early clinical signs and imaging findings in Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu).

PMID 16391566 2006 Prion disease genetics.

PMID 15824374 2005 PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia.

PMID 28778873 2018 Genetic PrP Prion Diseases.

PMID 10408557 1999 An inherited prion disease with a PrP P105L mutation: clinicopathologic and PrP heterogeneity.

PMID 23518043 2013 Genetics of prion diseases.

PMID 11709001 2001 A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease.

PMID 12451207 2002 A patient with dementia with Lewy bodies and codon 232 mutation of PRNP.

PMID 10541874 1999 Variant Gerstmann-Sträussler syndrome with the P105L prion gene mutation: an unusual case with nigral degeneration and widespread neurofibrillary tangles.

PMID 10963679 2000 Genetic influence on the structural variations of the abnormal prion protein.

PMID 12420099 2002 Mutations of the prion protein gene phenotypic spectrum.

rs1799990 in PRNP gene and Prion Diseases PMID 22210626 2012 Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.

PMID 23555862 2013 We retrospectively analyzed age at onset and disease duration; the concentrations and incidences of 14-3-3 protein, tau protein, and abnormal prion protein (PrP(Sc)) in the CSF of 309 gPrD patients with P102L, P105L, E200K, V180I, or M232R mutations; and brain pathology in 32 autopsied patients.

PMID 27341347 2016 Inherited prion diseases (IPDs), including genetic Creutzfeldt-Jakob disease (gCJD), account for 10-15% of cases of prion diseases and are associated with several pathogenic mutations, including P102L, V180I, and E200K, in the prion protein gene (PRNP).

PMID 25482600 2014 Rare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease.

PMID 22561193 2013 Pathogenic mutations such as 102P/L, 200E/K and 203V/I were observed in discriminated CJD patients group, and 180V/I and 232M/R were shown in suspected prion disease patients group and the KARE data group.

PMID 20592908 2010 Familial Creutzfeldt-Jakob disease with V180I mutation.

PMID 19703264 2010 An autopsy case of Creutzfeldt-Jakob disease with a V180I mutation of the PrP gene and Alzheimer-type pathology.

PMID 17029785 2006 V180I mutation of the prion protein gene associated with atypical PrPSc glycosylation.

PMID 8461023 1993 Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome.

PMID 24838726 2014 Genetic Creutzfeldt-Jakob disease (CJD) due to V180I mutation in the prion protein gene (PRNP) is of great interest because of the differences from sporadic CJD and other genetic prion diseases in terms of clinical features, as well as pathological and biochemical findings.

rs74315411 in PRNP gene and SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES PMID 12214108 2000 The Thr183Ala Mutation, Not the Loss of the First Glycosylation Site, Alters the Physical Properties of the Prion Protein.

PMID 9266722 1997 Familial spongiform encephalopathy associated with a novel prion protein gene mutation.