Entrez gene ID | | 5621 |
Official gene symbol | | PRNP |
Full name | | prion protein |
Aliases | | ,ASCR,CD230,CJD,GSS,MGC26679,PRIP,PrP,PrP27-30,PrP33-35C,PrPc,prion, |
Gene summary | | 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. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] |
Location | | Chromosome: 20 Locus: 20p13 |
Gene position | | 4666797 - 4682234 Map Viewer |
Gene orientation | | plus |
Gene size | | 15438 bp |
Gene sequence |
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OMIM ID | | 176640 |
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