Variants
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PRNP Gene

prion protein

ALIAS SYMBOLS

  • CD230

  • PRP

  • AltPrP

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Description

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 roles in several important processes. These include the transport of copper into cells and protection of brain cells (neurons) from injury (neuroprotection). Studies have also suggested a role for PrP in the formation of synapses, which are the junctions between nerve cells (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.

CHROMOSOME

20


LOCATION

p13


LOCUS TYPE

gene with protein product

VARIANTS

115

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:9449

  • NCBI

    5621

  • OMIM

    176640

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