LongevityMap Gene

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]
Cytogenetic Location
20p13
UCSC Genome Browser
View 20p13 on the UCSC genome browser
OMIM
176640
Ensembl
ENSG00000171867
UniProt/Swiss-Prot
APRIO_HUMAN
Entrez Gene
5621
UniGene
472010
1000 Genomes
1000 Genomes

Homologs in model organisms

Mus musculus
Prnp
Rattus norvegicus
Prnp

Studies (1)

Significant/Non-significant: 0/1

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
Indentifier
PRNP
Reference