LIMK1 LIM domain kinase 1
Gene ID: 3984, updated on 14-Nov-2024Gene type: protein coding
Also known as: LIMK; LIMK-1
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- Go to complete Gene record for LIMK1
- Go to Variation Viewer for LIMK1 variants
Summary
There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. LIMK1 is a serine/threonine kinase that regulates actin polymerization via phosphorylation and inactivation of the actin binding factor cofilin. This protein is ubiquitously expressed during development and plays a role in many cellular processes associated with cytoskeletal structure. This protein also stimulates axon growth and may play a role in brain development. LIMK1 hemizygosity is implicated in the impaired visuospatial constructive cognition of Williams syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Feb 2011]
Copy number response
Description |
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Copy number response Haploinsufficency No evidence available (Last evaluated 2012-08-22) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-08-22) ClinGen Genome Curation Page |
Genomic context
- Location:
- 7q11.23
- Sequence:
- Chromosome: 7; NC_000007.14 (74083804..74122525)
- Total number of exons:
- 17
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for LIMK1 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- LIMK1 database
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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