| Modification Notes |
Prion diseases, or transmissible spongiform encephalopathies (TSEs), are manifested as genetic, infectious or sporadic, lethal neurodegenerative disorders involving alterations of the prion protein (PrP). Characteristic of prion diseases, cellular PrP (PrPc) is converted to the disease form, PrPSc, through alterations in the protein folding conformations. PRNT (Putative testis-specific prion protein), also known as Protein M8, is a 94 amino acid secreted protein that is specifically expressed in adult testis and is only present in primates, not other mammals. The gene encoding PRNT maps to human chromosome 20 and resides within the prion gene cluster, though it does not have significant sequence similarity with prion proteins. Comprising approximately 2% of the human genome, chromosome 20 contains nearly 63 million bases that encode over 600 genes, some of which are associated with Creutzfeldt-Jakob disease, amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome. |
