PRNP prion protein (Kanno blood group)
Gene ID: 5621, updated on 23-Mar-2024Gene type: protein coding
Also known as: CJD; GSS; PrP; ASCR; KURU; PRIP; PrPc; CD230; AltPrP; p27-30; PrP27-30; PrP33-35C
- See all available tests in GTR for this gene
- Go to complete Gene record for PRNP
- Go to Variation Viewer for PRNP variants
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Fatal familial insomnia | See labs |
Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study. GeneReviews: Not available | |
Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. GeneReviews: Not available | |
Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists. GeneReviews: Not available | |
Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk. GeneReviews: Not available | |
Gerstmann-Straussler-Scheinker syndrome | See labs |
Huntington disease-like 1 | See labs |
Inherited Creutzfeldt-Jakob disease | See labs |
Kuru, susceptibility to | See labs |
Spongiform encephalopathy with neuropsychiatric features | See labs |
Genomic context
- Location:
- 20p13
- Sequence:
- Chromosome: 20; NC_000020.11 (4686456..4701588)
- Total number of exons:
- 2
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for PRNP variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- Prion Protein/CJD database
- PRNP database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.