Major prion protein

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PRNP_
Major prion protein
Identifiers
Symbol?
NCBI gene5621
OMIM176640
RefSeqNM_000311
UniProtP04156
Other data
LocusChr. 20 q13.2


The Major prion protein (PRNP) is a protein encoded by the PRNP gene in humans. It is a cell surface glycoprotein that plays a crucial role in the pathogenesis of prion diseases. The PRNP gene is located on chromosome 20q13.2.

Structure[edit | edit source]

The major prion protein is composed of a single polypeptide chain with a molecular weight of approximately 33-35 kDa. It consists of a flexible N-terminal domain and a structured C-terminal domain. The protein undergoes post-translational modifications, including glycosylation and GPI anchor attachment.

Function[edit | edit source]

The major prion protein is predominantly expressed in the central nervous system and plays a role in various cellular processes, including cell adhesion, signal transduction, and neuronal development. It is also implicated in prion diseases, such as Creutzfeldt-Jakob disease and scrapie, where the protein misfolds into an abnormal conformation leading to neurodegeneration.

Role in Disease[edit | edit source]

Mutations in the PRNP gene have been associated with inherited prion diseases, which are characterized by the accumulation of misfolded prion protein in the brain. These diseases can manifest as progressive neurodegenerative disorders with cognitive and motor impairments.

Interactions[edit | edit source]

The major prion protein interacts with various cellular components, including other proteins and lipids, to modulate its function and signaling pathways. These interactions are essential for maintaining normal cellular homeostasis and neuronal function.

Clinical Significance[edit | edit source]

Abnormalities in the major prion protein have been linked to the pathogenesis of prion diseases, making it a target for therapeutic interventions aimed at preventing or treating these devastating conditions. Understanding the structure and function of the major prion protein is crucial for developing effective strategies to combat prion diseases.

References[edit | edit source]


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Contributors: Prab R. Tumpati, MD