| Protein Name | prion protein (Kanno blood group) |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 5621 |
| Gene Symbol | PRNP |
| UniProt | F7VJQ1 (APRIO_HUMAN), P04156 (PRIO_HUMAN), Q53YK7 (Q53YK7_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
553
Total Number of Articles : 861 |
Description |
prion protein (Kanno blood group) |
| 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] |
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