LRRK2 wt Allele

Preferred Label : LRRK2 wt Allele;

NCIt synonyms : Parkinson Disease (Autosomal Dominant) 8 Gene; AURA17; RIPK7; PARK8; ROCO2; DARDARIN; Leucine-Rich Repeat Kinase 2 wt Allele;

NCIt definition : Human LRRK2 wild-type allele is located in the vicinity of 12q12 and is approximately 144 kb in length. This allele, which encodes leucine-rich repeat serine/threonine-protein kinase 2 protein, may be involved in the mediation of protein phosphorylation. Mutation in the gene are associated with Parkinson disease 8.;

GenBank Accession Number : AK026776;

Details

Origin ID

C78155;

UMLS CUI

C2697861;

OMIM relation
- Leucine-rich repeat kinase 2 [OMIM gene]
See also inter- (CISMeF)
- Parkinson disease LRRK2 gene mutation 12p11.23-q13.11 [ICD-11 More detail]
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
- 12q12 [NCIt concept]
gene_is_element_in_pathway
- Parkinson's Disease Pathway BioCarta [NCIt concept]
gene_plays_role_in_process
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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