PRNP wt Allele

Preferred Label : PRNP wt Allele;

NCIt synonyms : GSS; Prion Protein (p27-30) (Creutzfeldt-Jakob Disease, Gerstmann-Strausler-Scheinker Syndrome, Fatal Familial Insomnia) wt Allele; PrP27-30; ASCR; MGC26679; PrPc; PRIP; CJD; PrP; CD230; PrP33-35C;

NCIt definition : Human PRNP wild-type allele is located in the vicinity of 20p13 and is approximately 15 kb in length. This allele, which encodes major prion protein, plays a role in both the extracellular surface and the development of prion diseases. Mutations in the gene are associated with inherited transmissible spongiform encephalopathies.;

NCIt note : The PRNP gene product may be a factor in the pathology and transmission of Creutzfeldt-Jakob disease (CJD), fatal familial insomnia (FFI), Gerstmann-Straussler disease (GSD), Huntington disease-like 1 (HDL1) and kuru in humans.;

GenBank Accession Number : M13899;

Détails

Origin ID

C71443;

UMLS CUI

C2347435;

Currated CISMeF NLP mapping
- (ctm)PrP [MeSH concept]
- (ctm)PrP [MeSH Supplementary Concept]
- PrP (CJD) [MeSH concept]
- PrP (GSS) [MeSH concept]
OMIM relation
- Prion protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Creutzfeldt-Jakob Disease [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 20p13 [NCIt concept]
gene_is_element_in_pathway
- Prion Disease Pathway [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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