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PRNP / PrP / Prion 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.
Gene Name: | prion protein |
Synonyms: | PRNP, AltPrP, ASCR, CD230 antigen, CJD, KURU, Major prion protein, p27-30, Prion, Prion-related protein, PRIP, Prion protein (p27-30), PrP, PrP33-35C, BSE, CD230, Prion protein, PrP27-30, PrPc |
Target Sequences: | NM_000311 NP_000302.1 P04156 |
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