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, Oct 2012].
Synonyms: AltPrP, ASCR, atal familial insomnia, CD230, CD230 antigen, CJD, Creutzfeld Jakob disease, Gerstmann-Strausler-Scheinker syndrome, GSS, KURU, Major prion protein, MGC26679, p27 30, PRIO_HUMAN, Prion protein, Prion related protein, PRIP, Prni, Prnp, PrP, PrP27 30, PrP27-30, PrP33 35C, PrP33-35C, PrPC, PrPSc, Sinc.