Prion Protein

GWB-A4A383

6D11Host Animal: Mouse

Reacts with both the PrPc and PrPsc forms. Reacts with human. bovine. sheep. mule deer. elk. mouse and hamster PrP.

2mg/ml (ELISA)

The physiological function of PrP is not known.

Cell membrane; Lipid-anchor GPI-anchor. Golgi apparatus (By similarity).

The five tandem octapeptide repeats region is highly unstable. Insertions or deletions of octapeptide repeat units are associated to prion disease.

Defects in PRNP are the cause of Creutzfeldt-Jakob disease (CJD) [MIM:123400]. CJD occurs primarily as a sporadic disorder (1 per million) while 10-15% are familial. Accidental transmission of CJD to humans appears to be iatrogenic (contaminated human growth hormone (HGH) corneal transplantation electroencephalographic electrode implantation etc. ). Epidemiologic studies have failed to implicate the ingestion of infected annimal meat in the pathogenesis of CJD in human. The triad of microscopic features that characterize the prion diseases consists of (1) spongiform degeneration of neurons (2) severe astrocytic gliosis that often appears to be out of proportion to the degree of nerve cell loss and (3) amyloid plaque formation. CJD is characterized by progressive dementia and myoclonic seizures affecting adults in mid-life. Some patients present sleep disorders abnormalities of high cortical function cerebellar and corticospinal disturbances. The disease ends in death after a 3-12 months illness.

Defects in PRNP are the cause of Gerstmann-Straussler disease (GSD) [MIM:137440]. GSD is a heterogeneous disorder and was defined as a spinocerebellar ataxia with dementia and plaquelike deposits. GSD incidence is less than 2 per 100 million live births.

Defects in PRNP are the cause of kuru [MIM:245300]. Kuru is transmitted during ritualistic cannibalism among natives of the New Guinea highlands. Patients exhibit various movement disorders like cerebellar abnormalities rigidity of the limbs and clonus. Emotional lability is present and dementia is conspicuously absent. Death usually occurs from 3 to 12 month after onset.

Belongs to the prion family.