The PRNP gene provides instructions for making 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 that it play a role in several important processes. These include the transport of copper into cells and the protection of brain cells (neurons) from injury (neuroprotection). Studies have also suggested that PrP plays a role in the formation of synapses, which are the junctions between neurons where cell-to-cell communication occurs.
Different forms of PrP have been identified. The normal version is often designated PrPC to distinguish it from abnormal forms of the protein, which are generally designated PrPSc.
Other Names
PRIP; PrP
Related Genetics Topics
- Wilson disease — MedlinePlus Genetics
- Prion disease — MedlinePlus Genetics
- Huntington's disease-like — MedlinePlus Genetics
Identifiers
- NCBI Gene: 5621
- OMIM: 176640
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
