PRKN wt Allele

Preferred Label : PRKN wt Allele;

NCIt synonyms : E3 Ubiquitin Ligase Parkin Gene; AR-JP; Parkin Gene; Parkin RBR E3 Ubiquitin Protein Ligase wt Allele; PDJ; LPRS2; Parkinson Disease (Autosomal Recessive, Juvenile) 2, Parkin Gene; Parkinson Protein 2, E3 Ubiquitin Protein Ligase (Parkin) Gene; PARK2;

NCIt definition : Human PRKN wild-type allele is located in the vicinity of 6q26 and is approximately 1380 kb in length. This allele, which encodes E3 ubiquitin-protein ligase parkin protein, may be involved in the modulation of ubiquitination. Mutation of the gene is associated with Parkinson disease. Somatic mutations may be associated with either ovarian or lung adenocarcinoma.;

GenBank Accession Number : NM_004562;

Details

Origin ID

C90312;

UMLS CUI

C2983548;

OMIM relation
- Parkin rbr e3 ubiquitin protein ligase [OMIM gene]
See also inter- (CISMeF)
- Parkinson disease 2, autosomal recessive juvenile [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Parkinson Disease [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6q26 [NCIt concept]
gene_is_element_in_pathway
- Parkinson's Disease Pathway KEGG [NCIt concept]
- Ubiquitin-mediated Proteolysis Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Death Process [NCIt concept]
- Polyubiquitination [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]
- Ubiquitination [NCIt concept]

Keyword's position in hierarchy(ies) :

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