Basic information of PRNP :
| Official Symbol of Gene | PRNP |
| Species | Homo sapiens |
| Entrez Gene ID | 5621 |
| Official Full Name | prion protein |
| Also known as | CJD; GSS; PrP; ASCR; KURU; PRIP; PrPc; CD230; AltPrP; p27-30; PrP27-30; PrP33-35C |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000171867 MIM:176640; AllianceGenome:HGNC:9449 |
| Map Location | 20p13 |
| Variation Type | SNP |
| refSNP ID | NA |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | NA |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | MS |
| Population | NA |
| Sample Size | NA |
Literature information of multiple sclerosis :
| Pubmed ID | 19204171 |
| Year | 2009 |
| Title | Genetic Polymorphism at Codon 129 of the Prion Protein Gene Is Not Associated With Multiple Sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | No deviations from Hardy-Weinberg equilibrium were observed for genotypes in the patient, parent, or com-bined group (data not shown). |
| Mechanism/Pathway | Interestingly, it was also recently shown that the same Prnp129 SNP has a significant effect on the clinical course of nu-merous nonprion neurodegenerative disorders of the cen-tral nervous system (CNS), including early-onset Alz-heimer disease,2-4 Down syndrome,5 and Wilson disease.6 In these studies, methionine/valine (M/V) heterozygos-ity was associated with less severe clinical disease. Fi-nally, the Prnp129 SNP was also shown to negatively affect long-term memory in adult and senescent healthy indi-viduals.7-9 The exact mechanisms by which genetic poly-morphisms of Prnp alter CNS function and disease phe-notypes are largely unknown. |
