The major prion protein (PrP) is encoded in the human body by the PRNP gene also known as CD230 (cluster of differentiation 230). [ 5 ] [ 6 ] [ 7 ] [ 8 ] Expression of the protein is most predominant in the nervous system but occurs in many other tissues throughout the body.

2024年12月25日 · PRNP (Prion Protein (Kanno Blood Group)) is a Protein Coding gene. Diseases associated with PRNP include Fatal Familial Insomnia and Gerstmann-Straussler Disease. Among its related pathways are Nervous system development and NCAM signaling for neurite out-growth.

The PRNP gene provides instructions for making a protein called prion protein (PrP), which is active in the brain and several other tissues. Learn about this gene and related health conditions.

2024年1月21日 · Prion disease is a group of rare, terminal neurodegenerative diseases. They happen when proteins in your brain turn into abnormal proteins known as prions. Prion disease causes brain damage that leads to dementia. Healthcare providers focus on treatments, including medication, to manage symptoms. What is prion disease?

2010年3月3日 · PRNP is the only gene known to be associated with genetic prion disease. The presence of a PRNP mutation is necessary to establish the diagnosis of genetic prion disease in a symptomatic...

Prion protein gene (PRNP) variation in German and Danish cervids. Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease. Cellular Prion protein moonlights vascular smooth muscle cell fate: Surveilled by trophoblast cells.

2003年3月27日 · Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary.

PRNP was established as the only causative gene for different prion diseases, since several pathogenic and possibly pathogenic variants were discovered in its coding region. These mutations were associated with different clinical phenotypes of neurodegenerative diseases, such as CJD, GSS, FFI, or other types of dementia.

Starting with a brief overview of prion theory, this article examines findings that PRNP associates directly with the antimicrobial peptide Aβ, that PRNP and Aβ are codeposited in disease brain, and that PRNP (like Aβ) binds to both membranes and nucleic acids and displays antiviral activity.

2025年1月4日 · Clinical resource with information about PRNP, Fatal familial insomnia, Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study., Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP., Genome-wide meta-analyses identifies seven loci associated with ...