PRNP : prion protein (Kanno blood group)

Description

The PRNP (prion protein (Kanno blood group)) is a protein-coding gene located on chromosome 20.

The PRNP gene provides instructions for making a protein called prion protein (PrP), which is active in the brain and several other tissues. The exact function of PrP is unknown, but researchers have proposed that it plays 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.

The exact function of PRNP is unknown, but it is thought to be involved in several important processes, including neuronal development and synaptic plasticity. It may also play a role in the maintenance of myelin sheaths around neurons, possibly by acting as an agonist for the ADGRG6 receptor. Additionally, PRNP may be involved in iron uptake and homeostasis. Soluble oligomers of PRNP have been shown to be toxic to cultured neuroblastoma cells and can induce apoptosis. PRNP interacts with GPC1, which targets it to lipid rafts. It also provides copper or zinc for the degradation of heparan sulfate side chains in GPC1. These interactions suggest that PRNP plays a role in cellular signaling and membrane trafficking.

PRNP is also known as ASCR, AltPrP, CD230, CJD, GSS, KURU, PRIP, PrP, PrP27-30, PrP33-35C, PrPc, p27-30.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing