LP97417-7
PRNP gene
Active
Description
The PRNP gene (prion protein) [HGNC Gene ID:9449] is located on chromosome 20p13. 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] [NCBI Gene ID:5621] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- PRNP gene
- Part Display Name
- PRNP gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2009-10-02
- Construct for LOINC Short Name
- PRNP gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen PRNP |
| it-IT | Italian (Italy) | PRNP, gene Synonyms: Gene PRNP |
| et-EE | Estonian (Estonia) | PRNP geen |
| tr-TR | Turkish (Turkey) | PRNP geni |
| zh-CN | Chinese (China) | PRNP 基因 Synonyms: ASCR; |
| ru-RU | Russian (Russian Federation) | PRNP ген |
| fr-CA | French (Canada) | Gène PRNP |
| nl-NL | Dutch (Netherlands) | PRNP-gen Synonyms: PRNP gen |
| el-GR | Greek (Greece) | Γονίδιο PRNP Synonyms: Γονίδιο PRNP |
LOINC Copyright
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