PRNP Chromosome 20
Prion protein (Kanno blood group)
Upload your DNA to see your personal genotypes for variants in PRNP.
What This Gene Does
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]
Gene Info
Gene Group
"Blood group antigens|CD molecules"
Locus Type
gene with protein product
Location
20p13
Ensembl
ENSG00000171867
Associated Conditions (15)
Huntington disease-like 1
Inherited Creutzfeldt-Jakob disease
Inherited prion disease
6 conditions
Congenital portosystemic shunt
Spongiform encephalopathy with neuropsychiatric features
Fatal familial insomnia
Gerstmann-Straussler-Scheinker syndrome
CEREBRAL AMYLOID ANGIOPATHY
PRNP-RELATED
PRNP-related disorder
Inborn genetic diseases
PRNP-associated condition
Kuru
protection against
Key Variants
RS371948269
Conflicting classifications of pathogenicity
Huntington disease-like 1, Huntington disease-like 1
Health Risk
RS74315408
Conflicting classifications of pathogenicity
Inherited Creutzfeldt-Jakob disease, Inherited prion disease, Huntington disease-like 1
Health Risk
RS747019990
Conflicting classifications of pathogenicity
Inherited prion disease, Huntington disease-like 1, Inherited prion disease
Health Risk
RS748227837
Conflicting classifications of pathogenicity
Inherited prion disease, Huntington disease-like 1, Inherited prion disease
Health Risk
RS751882709
Conflicting classifications of pathogenicity
Fatal familial insomnia, Huntington disease-like 1, Gerstmann-Straussler-Scheinker syndrome
Health Risk
RS945136467
Conflicting classifications of pathogenicity
Inherited prion disease, Huntington disease-like 1, Inherited prion disease
Health Risk
RS181348299
Likely pathogenic
Huntington disease-like 1, Inherited Creutzfeldt-Jakob disease, Huntington disease-like 1
Health Risk
RS372878791
Likely pathogenic
Huntington disease-like 1, Huntington disease-like 1
Health Risk
RS398122414
Likely pathogenic
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, CEREBRAL AMYLOID ANGIOPATHY
Health Risk
RS74315406
Likely pathogenic
Gerstmann-Straussler-Scheinker syndrome, Huntington disease-like 1, PRNP-related disorder
Health Risk
RS74315410
Likely pathogenic
Gerstmann-Straussler-Scheinker syndrome, Huntington disease-like 1, Gerstmann-Straussler-Scheinker syndrome
Health Risk
RS11538758
Pathogenic
Gerstmann-Straussler-Scheinker syndrome, Inborn genetic diseases, Gerstmann-Straussler-Scheinker syndrome
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS371948269 | Health Risk | Conflicting classifications of pathogenicity | Huntington disease-like 1, Huntington disease-like 1 |
| RS74315408 | Health Risk | Conflicting classifications of pathogenicity | Inherited Creutzfeldt-Jakob disease, Inherited prion disease, Huntington disease-like 1 |
| RS747019990 | Health Risk | Conflicting classifications of pathogenicity | Inherited prion disease, Huntington disease-like 1, Inherited prion disease |
| RS748227837 | Health Risk | Conflicting classifications of pathogenicity | Inherited prion disease, Huntington disease-like 1, Inherited prion disease |
| RS751882709 | Health Risk | Conflicting classifications of pathogenicity | Fatal familial insomnia, Huntington disease-like 1, Gerstmann-Straussler-Scheinker syndrome |
| RS945136467 | Health Risk | Conflicting classifications of pathogenicity | Inherited prion disease, Huntington disease-like 1, Inherited prion disease |
| RS181348299 | Health Risk | Likely pathogenic | Huntington disease-like 1, Inherited Creutzfeldt-Jakob disease, Huntington disease-like 1 |
| RS372878791 | Health Risk | Likely pathogenic | Huntington disease-like 1, Huntington disease-like 1 |
| RS398122414 | Health Risk | Likely pathogenic | CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, CEREBRAL AMYLOID ANGIOPATHY |
| RS74315406 | Health Risk | Likely pathogenic | Gerstmann-Straussler-Scheinker syndrome, Huntington disease-like 1, PRNP-related disorder |
| RS74315410 | Health Risk | Likely pathogenic | Gerstmann-Straussler-Scheinker syndrome, Huntington disease-like 1, Gerstmann-Straussler-Scheinker syndrome |
| RS11538758 | Health Risk | Pathogenic | Gerstmann-Straussler-Scheinker syndrome, Inborn genetic diseases, Gerstmann-Straussler-Scheinker syndrome |
| RS1555782101 | Health Risk | Pathogenic | CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, CEREBRAL AMYLOID ANGIOPATHY |
| RS17852079 | Health Risk | Pathogenic | Gerstmann-Straussler-Scheinker syndrome, Gerstmann-Straussler-Scheinker syndrome |
| RS193922906 | Health Risk | Pathogenic | Huntington disease-like 1, Inherited Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome |
| RS28933385 | Health Risk | Pathogenic | Inherited Creutzfeldt-Jakob disease, Fatal familial insomnia, Huntington disease-like 1 |
| RS398122370 | Health Risk | Pathogenic | Inherited Creutzfeldt-Jakob disease, Inherited Creutzfeldt-Jakob disease |
| RS74315401 | Health Risk | Pathogenic | Gerstmann-Straussler-Scheinker syndrome, Huntington disease-like 1, Spongiform encephalopathy with neuropsychiatric features |
| RS74315402 | Health Risk | Pathogenic | Gerstmann-Straussler-Scheinker syndrome, Inborn genetic diseases, Gerstmann-Straussler-Scheinker syndrome |
| RS74315405 | Health Risk | Pathogenic | Gerstmann-Straussler-Scheinker syndrome, Huntington disease-like 1, Gerstmann-Straussler-Scheinker syndrome |
| RS74315411 | Health Risk | Pathogenic | Spongiform encephalopathy with neuropsychiatric features, Huntington disease-like 1, Spongiform encephalopathy with neuropsychiatric features |
| RS74315413 | Health Risk | Pathogenic | Gerstmann-Straussler-Scheinker syndrome, Spongiform encephalopathy with neuropsychiatric features, Gerstmann-Straussler-Scheinker syndrome |
| RS74315414 | Health Risk | Pathogenic | Spongiform encephalopathy with neuropsychiatric features, Spongiform encephalopathy with neuropsychiatric features |
| RS74315415 | Health Risk | Pathogenic | Gerstmann-Straussler-Scheinker syndrome, Gerstmann-Straussler-Scheinker syndrome |
| RS80356710 | Health Risk | Pathogenic | CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, CEREBRAL AMYLOID ANGIOPATHY |
| RS80356711 | Health Risk | Pathogenic | CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, Huntington disease-like 1 |
| RS74315403 | Health Risk | Pathogenic/Likely pathogenic | Fatal familial insomnia, Huntington disease-like 1, Spongiform encephalopathy with neuropsychiatric features |
| RS74315412 | Health Risk | Pathogenic/Likely pathogenic | Inherited Creutzfeldt-Jakob disease, Huntington disease-like 1, PRNP-related disorder |
| RS74315407 | Health Risk | Pathogenic/Likely pathogenic/Pathogenic, low penetrance | Inherited Creutzfeldt-Jakob disease, Huntington disease-like 1, 6 conditions |
| RS267606980 | Protective | protective | Kuru, protection against, Kuru |