PRNP


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PRNP

A gene on chromosome 20p13 that encodes a membrane glycosyl-phosphatidylinositol-anchored glycoprotein, which aggregates into rod-like structures and contains a highly unstable region of five tandem octapeptide repeats. The exact function of PrP is unknown.

Molecular pathology
PRNP mutations are linked to Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington-like disease 1 and kuru.
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In addition to PRNP, the team is currently sequencing several genes closely related to it.
Prion infectivity in the spleen of a PRNP heterozygous individual with subclinical variant Creutzfeldt-Jakob disease.
Variably protease-sensitive prionopathy in a PRNP codon 129 heterozygous UK patient with co-existing tau, a synuclein and Ap pathology.
double dagger]) UK-VV, patient from the United Kingdom who was homozygous for valine at PRNP codon 129.
res] abundance and whether the PMCA substrate was from human brain, PRNP humanized murine brain, or a human-derived and human [PrP.
The in vivo model is undoubtedly more complex and arguably more physiologically relevant, and the readout is disease; however, it remains disease in a mouse, in which the PRNP sequence alone is human.
Variant CJD in an individual heterozygous for PRNP codon 129.
When lumbar spinal cord tissue homogenates were intracerebrally inoculated into mice transgenic for the bovine PRNP gene, samples from symptomatic (type 2B signature) and asymptomatic macaques (abnormal signature) were infectious and caused disease in mice (53% diseased mice in both groups) with no statistically significant difference in the incubation periods (355 [+ or -] 41 vs.
The discrepancy between the low number of vCJD cases in the United Kingdom to date and the higher prevalence of infected humans estimated on the basis of retrospective biopsy analyses (27,28) indicates the existence of pre- or subclinical cases, perhaps as a result of a low-dose exposure to BSE-contaminated material or a less susceptible PRNP genotype.
Population distribution of the methionine allele at the PRNP codon 129 polymorphism in Europe and the Middle East.
res] was evident after PMCA in any of the PRNP humanized transgenic mouse brain substrates (Figure 1, panels A, B).
C], specifically the species-specific amino acid sequence and PRNP polymorphic status of [PrP.