PINK1 wt Allele

Preferred Label : PINK1 wt Allele;

NCIt synonyms : PARK6; PTEN Induced Kinase 1 wt Allele; PTEN Induced Putative Kinase 1 Gene; Parkinson Disease (Autosomal Recessive) 6 Gene; Protein Kinase BRPK Gene; BRPK;

NCIt definition : Human PINK1 wild-type allele is located in the vicinity of 1p36.12 and is approximately 18 kb in length. This allele, which encodes Serine/threonine-protein kinase PINK1, mitochondrial protein, plays a role in prevention of mitochondrial dysfunction. Mutations in the gene are associated with early onset Parkinson disease 6.;

NCI Metathesaurus CUI : CL1926585;

GenBank Accession Number : AB053323;

Details

Origin ID

C204491;

UMLS CUI

C5890895;

OMIM relation
- Pten-induced kinase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p36.12 [NCIt concept]
gene_is_element_in_pathway
- Amyotrophic Lateral Sclerosis Pathway [NCIt concept]
- Parkinson's Disease Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Phosphorylation Process [NCIt concept]
- Protein Degradation Induction [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]
- Stress Response Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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