Have questions? Visit https://www.reddit.com/r/SNPedia

PRNP

From SNPedia

is agene
is mentioned by
Full nameprion protein
EntrezGene5621
PheGenI5621
VariationViewer5621
ClinVarPRNP
GeneCardsPRNP
dbSNP5621
SADR5621
HugeNav5621
wikipediaPRNP
googlePRNP
gopubmedPRNP
EVSPRNP
HEFalMpPRNP
MyGene2PRNP
23andMePRNP
UniProtP04156
EnsemblENSG00000171867
OMIM176640
# SNPs29
 Max MagnitudeChromosome positionSummary
rs1153875844,699,534Location of P105L pathogenic mutation in Prion Protein
rs1699001824,699,732Codes for Prion Protein codon 171
rs1785207904,699,899
rs17999902.34,699,605
rs180001404,699,875
rs2676069804,699,600
rs27562714,684,616
rs2893338544,699,818
rs39812237004,699,851
rs39812241304,699,853
rs39812241404,699,898
rs576336564,685,463
rs61075164,696,446
rs7431540104,699,525
rs7431540204,699,570
rs7431540344,699,752
rs7431540504,699,813
rs7431540604,699,870
rs7431540704,699,848
rs7431540804,699,758
rs7431540904,699,915
rs7431541004,699,612
rs7431541104,699,767
rs7431541204,699,843
rs7431541304,699,780
rs7431541404,699,533
rs7431541504,699,618
rs8035671004,699,655
rs8035671104,699,698

This gene is linked to Creutzfeldt-Jakob disease (CJD) [PMID 1677164].

A variant of the PRNP gene protects against kuru, a brain wasting disease that was formerly epidemic in Papua New Guinea among groups who practiced a ritual form of cannibalism [PMID 19923577]. Mad cow disease (bovine spongiform encephalopathy or BSE), scrapie, and kuru are all prion diseases.

SNPs in this gene include:

  • rs1799990, also known as M129V or Met129Val
  • rs267606980, G127V appears to protect against kuru [PMID 19923577]
  • Gerstmann-Straussler-Scheinker disease (GSS) may be caused by defects in the PRNP gene (see [[1]] this New York Times article about a family affected by this disease)

http://www.cureffi.org/2015/01/13/list-of-reportedly-pathogenic-prnp-variants/

http://stm.sciencemag.org/content/8/322/322ra9.full