LIMK1 wt Allele

Preferred Label : LIMK1 wt Allele;

NCIt synonyms : LIM Domain Kinase 1 wt Allele; LIMK;

NCIt definition : Human LIMK1 wild-type allele is located in the vicinity of 7q11.23 and is approximately 39 kb in length. This allele, which encodes LIM domain kinase 1 protein, plays a role in stabilization of the actin cytoskeleton via inactivation of the actin binding/depolymerizing factor cofilin. Hemizygosity of the LIMK1 gene is associated with Williams syndrome.;

NCIt note : The LIMK1 gene is putatively involved in brain development.;

GenBank Accession Number : NM_002314;

Details

Origin ID

C51212;

UMLS CUI

C1708623;

OMIM relation
- Lim domain kinase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 7: 72942807-72981505 [NCIt concept]
gene_in_chromosomal_location
- 7q11.23 [NCIt concept]
gene_is_element_in_pathway
- CCR3 Signaling Pathway [NCIt concept]
- Rac1 Cell Motility Signaling Pathway [NCIt concept]
- Rho Cell Motility Signaling Pathway [NCIt concept]
- SRF Activation Pathway [NCIt concept]
gene_plays_role_in_process
- Cytoskeletal Modeling [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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