LRRK1 wt Allele

Preferred Label : LRRK1 wt Allele;

NCIt synonyms : Leucine-Rich Repeat Kinase 1 Gene; FLJ23119; KIAA1790; Leucine Rich Repeat Kinase 1 wt Allele; RIPK6; Roco1;

NCIt definition : Human LRRK1 wild-type allele is located in the vicinity of 15q26.3 and is approximately 159 kb in length. This allele, which encodes leucine-rich repeat serine/threonine-protein kinase 1 protein, plays a role in the phosphorylation of serine and threonine and osteoclast activity. Variation of the gene may be associated with osteosclerotic metaphyseal dysplasia.;

NCI Metathesaurus CUI : CL1773918;

GenBank Accession Number : AB058693;

Détails

Origin ID

C185555;

UMLS CUI

C5575295;

Automatic exact mappings (from CISMeF team)
- leucine rich repeat kinase 1 [ORDO Gene]
OMIM relation
- Leucine-rich repeat kinase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 15q26.3 [NCIt concept]
gene_plays_role_in_process
- Bone Remodeling [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients