Cat. No.: GENE0007

PRNP

Description Prion Protein
Category Protein Coding
GIFtS 46
GC id GC20P004686
Score 34.52
Entrez Gene Summary The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
GeneCards Summary PRNP (Prion Protein) is a Protein Coding gene. Diseases associated with PRNP include Creutzfeldt-Jakob Disease and Fatal Familial Insomnia. Among its related pathways are NCAM1 interactions and Copper homeostasis. Gene Ontology (GO) annotations related to this gene include identical protein binding and chaperone binding.
Gene Database GeneCards: The Human Gene Database
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