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LIMK1 LIM domain kinase 1

Gene ID: 3984, updated on 14-Nov-2024
Gene type: protein coding
Also known as: LIMK; LIMK-1

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
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2012-08-22)

ClinGen Genome Curation Page
Triplosensitivity

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

Links

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