PRNP
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | prion protein |
| EntrezGene | 5621 |
| PheGenI | 5621 |
| VariationViewer | 5621 |
| ClinVar | PRNP |
| GeneCards | PRNP |
| dbSNP | 5621 |
| Diseases | PRNP |
| SADR | 5621 |
| HugeNav | 5621 |
| wikipedia | PRNP |
| PRNP | |
| gopubmed | PRNP |
| EVS | PRNP |
| HEFalMp | PRNP |
| MyGene2 | PRNP |
| 23andMe | PRNP |
| UniProt | P04156 |
| Ensembl | ENSG00000171867 |
| OMIM | 176640 |
| # SNPs | 30 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| i5004356 | |||
| rs11538758 | 4 | 4,699,534 | Location of P105L pathogenic mutation in Prion Protein |
| rs16990018 | 2 | 4,699,732 | Codes for Prion Protein codon 171 |
| rs17852079 | 6 | 4,699,899 | |
| rs1799990 | 2.3 | 4,699,605 | |
| rs1800014 | 0 | 4,699,875 | |
| rs267606980 | 0 | 4,699,600 | |
| rs2756271 | 0 | 4,684,616 | |
| rs28933385 | 4 | 4,699,818 | |
| rs398122370 | 0 | 4,699,851 | |
| rs398122413 | 7 | 4,699,853 | |
| rs398122414 | 0 | 4,699,898 | |
| rs57633656 | 0 | 4,685,463 | |
| rs6107516 | 0 | 4,696,446 | |
| rs74315401 | 8 | 4,699,525 | |
| rs74315402 | 8 | 4,699,570 | |
| rs74315403 | 6.5 | 4,699,752 | |
| rs74315405 | 9 | 4,699,813 | |
| rs74315406 | 8 | 4,699,870 | |
| rs74315407 | 0 | 4,699,848 | |
| rs74315408 | 0 | 4,699,758 | |
| rs74315409 | 0 | 4,699,915 | |
| rs74315410 | 8 | 4,699,612 | |
| rs74315411 | 0 | 4,699,767 | |
| rs74315412 | 0 | 4,699,843 | |
| rs74315413 | 8 | 4,699,780 | |
| rs74315414 | 8 | 4,699,533 | |
| rs74315415 | 7 | 4,699,618 | |
| rs80356710 | 0 | 4,699,655 | |
| rs80356711 | 0 | 4,699,698 |
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)
- rs74315401 P102L
- rs74315402 A117V
http://www.cureffi.org/2015/01/13/list-of-reportedly-pathogenic-prnp-variants/
