{"symbol":"PRNP","synonyms":["CJD","P27-30","PRPC","ASCR","CD230","ALTPRP","GSS","PRP27-30","PRP33-35C","KURU"],"name":"prion protein","description":"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]","ncbiEntrezGeneId":5621,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5621","proteins":[{"symbol":"APRIO_HUMAN","href":"/api/1.0/protein/APRIO_HUMAN"}],"hgncRootFamilies":[{"name":"CD molecules (CD)","href":"/api/1.0/gene_family/CD+molecules+%28CD%29"}]}