Gene Symbol | PRNP |
Entrez Gene ID | 5621 |
Full Name | prion protein |
Synonyms | ASCR,AltPrP,CD230,CJD,GSS,KURU,PRIP,PrP,PrP27-30,PrP33-35C,PrPc,p27-30 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Creutzfeldt-Jakob disease, 123400 (3); Gerstmann-Straussler disease, 137440 (3); Insomnia, fatal familial, 600072 (3); Prion disease with protracted course, 606688 (3); Huntington disease-like 1, 603218 (3); {Kuru, susceptibility to}, 245300 (3); Cerebral amyloid angiopathy, PRNP-related, 137440 (3) |