LongevityMap variant
- Longevity Association
- Non-significant
- Population
- Polish
- Study Design
- The M129V polymorphism in PRNP was studied in 150 centenarians compared to 165 controls
- Conclusions
- No differences were observed between oldest-old and the young controls
- HGNC symbol
- PRNP
- Aliases
- CJD; GSS; PrP; ASCR; KURU; PRIP; PrPc; CD230; AltPrP; p27-30; PrP27-30; PrP33-35C
- Common name
- prion protein
- Description
- 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. [provided by RefSeq, Nov 2014]
- OMIM
- 176640
- Ensembl
- ENSG00000171867
- UniProt/Swiss-Prot
- APRIO_HUMAN
- Entrez Gene
- 5621
- UniGene
- 472010
- HapMap
- View on HapMap
Homologs in model organisms
- Mus musculus
- Prnp
- Rattus norvegicus
- Prnp
- CellAge gene expression
- This gene is present as PRNP
Golanska et al. (2013)
Other variants which are also part of this study
