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Ovarian Kaleidoscope Database (OKdb)

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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


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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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.
General function
Comment
Cellular localization Cytoplasmic, Plasma membrane
Comment
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
Expression regulated by
Comment
Ovarian localization
Comment
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
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created: June 22, 2006, 3:22 p.m. by: alex   email:
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last update: July 26, 2006, 1:32 p.m. by: Alex    email:



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