PRNP

PRNP (PRioN Protein) is the human gene encoding for the major prion protein PrP (for prion protein or protease-resistant protein), also known as CD230 (cluster of differentiation 230). Expression of the protein is most predominant in the nervous system but occurs in many other tissues throughout the body.

The protein can exist in multiple isoforms, the normal PrP^C, the disease-causing PrP^Sc, and an isoform located in mitochondria. The misfolded version PrP^Sc is associated with a variety of cognitive disorders and neurodegenerative diseases such as bovine spongiform encephalopathy, chronic wasting disease, Creutzfeldt–Jakob disease, fatal familial insomnia, feline spongiform encephalopathy, Gerstmann–Sträussler–Scheinker syndrome, kuru, scrapie, transmissible mink encephalopathy, ungulate spongiform encephalopathy, and variant Creutzfeldt-Jakob disease.

Gene

The human PRNP gene is located on the short (p) arm of chromosome 20 between the end (terminus) of the arm and position 12, from base pair 4,615,068 to base pair 4,630,233.