| Prion Protein | OKDB#: 3296 |
| Symbols: | PRNP | Species: | human | ||
| Synonyms: | CJD, GSS, PrP, ASCR, PRIP, PrPc, CD230, MGC26679, PrP27-30, PrP33-35C,PRP|PRION-RELATED PROTEIN, PRIP | Locus: | 20p13 in Homo sapiens |
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OMIM
Entrez Gene
Mammalian Reproductive Genetics Endometrium Database Resource Orthologous Genes UCSC Genome Browser GEO Profiles new! Amazonia (transcriptome data) new! R-L INTERACTIONS MGI |
| General Comment | NCBI 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. Two transcript variants encoding the same protein have been found for this gene. | ||||
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| Cellular localization | Cytoplasmic, Plasma membrane | ||||
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| Ovarian function | Oogenesis, Oocyte maturation | ||||
| Comment | Gene whose expression is detected by cDNA array hybridization: transcription factors, cell signaling and extracellular communication Rozenn Dalbis-Tran and Pascal Mermilloda | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
| Links |
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| created: | June 22, 2006, 3:22 p.m. | by: |
alex email:
home page: |
| last update: | July 26, 2006, 1:32 p.m. | by: | Alex email: |
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