LIMK1 Chromosome 7

LIM domain kinase 1
3 variants 3 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
"LIM domain containing|PDZ domain containing|LIMK/TESK kinase family"
Locus Type
gene with protein product
Location
7q11.23
Ensembl
ENSG00000106683
Associated Conditions (3)
LIMK1-related disorder
See cases
Undetermined early-onset epileptic encephalopathy
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS178412 Health Risk Conflicting classifications of pathogenicity LIMK1-related disorder, LIMK1-related disorder
RS782368761 Health Risk Likely pathogenic See cases, See cases
RS2487140003 Health Risk Pathogenic Undetermined early-onset epileptic encephalopathy, Undetermined early-onset epileptic encephalopathy
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