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]
Aliases: PRNP; CJD; GSS; PrP; ASCR; KURU; PRIP; PrPc; AltPrP; p27-30; PrP27-30; PrP33-35C
Entrez GeneID: 5621
Swissprot: P04156
WB Predicted band size: 27.7kDa
Host/Isotype: Mouse IgG1
Species Reactivity: Human
Immunogen: Purified recombinant fragment of human CD230 (AA: 23-230) expressed in E. Coli.