LongevityMap variant

Entry Details

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
Identifier
PRNP
Cytogenetic Location
20p13
UCSC Genome Browser
View 20p13 on the UCSC genome browser

Gene details

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

References

Golanska et al. (2013)

Other variants which are also part of this study