Gene Symbol | PRNP |
Entrez Gene ID | 458076 |
Full Name | prion protein |
Synonyms | CD230,PrP,PrP27-30,PrP33-35C |
General protein information |
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Gene Type | protein-coding |
Organism | Pan troglodytes(chimpanzee) |
Summary | In human, 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 Kb upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. In human, mutations in the repeat region as well as elsewhere in the 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, Jul 2008]. |