Description

The PRNP gene encodes a protein called prion protein (PrP), which is active in the brain and several other tissues. Although the precise function of this protein is unknown, researchers have proposed roles in several important processes, as neuroprotection and formation of synapses. The PRNP gene is implicated in various types of transmissible neurodegenerative spongiform encephalopathies. The human prion diseases occur in inherited, acquired, and sporadic forms. Approximately 15% are inherited and associated with coding mutations in the PRNP gene. Inherited prion diseases include familial Creutzfeldt-Jakob disease (CJD; OMIM: 123400), Gerstmann-Straussler disease (GSD; OMIM: 137440), and fatal familial insomnia (FFI; OMIM: 600072) (Collinge et al., 1996; Parchi et al., 2000; Hill et al., 2003).