Normal Function
The LIMK1 gene provides instructions for making a protein that is highly active in the brain, where it is thought to be involved in the growth and development of nerve cells. Studies suggest that this protein may play an important role in areas of the brain that are responsible for processing visual-spatial information (visuospatial constructive cognition). These parts of the brain are important for visualizing an object as a set of parts and performing tasks such as writing, drawing, constructing models, and assembling puzzles.
Within cells, the LIMK1 protein likely regulates aspects of the cytoskeleton, the structural framework that helps to determine cell shape, size, and movement. The LIMK1 protein helps control the organization of actin filaments, which are long, thin fibers that are part of the cytoskeleton. Actin filaments are necessary for several normal cellular functions, such as cell division, cell movement (motility), maintenance of cell shape, transport of proteins and other molecules within cells, and chemical signaling between cells.
Health Conditions Related to Genetic Changes
Williams syndrome
The LIMK1 gene is located in a region of chromosome 7 that is deleted in people with Williams syndrome, which is a developmental disorder characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. As a result of the deletion, people with Williams syndrome are missing one copy of the LIMK1 gene in each cell. Some studies suggest that a loss of this gene contributes to the characteristic problems with visual-spatial tasks (such as writing and drawing) seen in Williams syndrome; however, other studies have not found this connection. Researchers are working to determine how a reduction in the amount of LIMK1 protein could be related to the specific impairments seen in Williams syndrome.
More About This Health ConditionCancers
The LIMK1 protein is produced at unusually high levels (overexpressed) in some cancerous tumors. For example, increased amounts of this protein have been found in a form of skin cancer called melanoma and in ovarian cancer, breast cancer, lung cancer, and prostate cancer. Researchers believe that high levels of the LIMK1 protein may be associated with changes in the organization of actin filaments and an increased chance that a tumor will invade other tissues.
Other Names for This Gene
- LIM kinase
- LIM kinase 1
- LIM motif-containing protein kinase
- LIMK
- LIMK-1
- LIMK1_HUMAN
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
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- Davila M, Jhala D, Ghosh D, Grizzle WE, Chakrabarti R. Expression of LIM kinase 1 is associated with reversible G1/S phase arrest, chromosomal instability and prostate cancer. Mol Cancer. 2007 Jun 8;6:40. doi: 10.1186/1476-4598-6-40. Citation on PubMed or Free article on PubMed Central
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- Gray V, Karmiloff-Smith A, Funnell E, Tassabehji M. In-depth analysis of spatial cognition in Williams syndrome: A critical assessment of the role of the LIMK1 gene. Neuropsychologia. 2006;44(5):679-85. doi: 10.1016/j.neuropsychologia.2005.08.007. Epub 2005 Oct 10. Citation on PubMed
- Gregory MD, Mervis CB, Elliott ML, Kippenhan JS, Nash T, B Czarapata J, Prabhakaran R, Roe K, Eisenberg DP, Kohn PD, Berman KF. Williams syndrome hemideletion and LIMK1 variation both affect dorsal stream functional connectivity. Brain. 2019 Dec 1;142(12):3963-3974. doi: 10.1093/brain/awz323. Citation on PubMed
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- Kozel BA, Barak B, Kim CA, Mervis CB, Osborne LR, Porter M, Pober BR. Williams syndrome. Nat Rev Dis Primers. 2021 Jun 17;7(1):42. doi: 10.1038/s41572-021-00276-z. Citation on PubMed
- Meyer-Lindenberg A, Mervis CB, Sarpal D, Koch P, Steele S, Kohn P, Marenco S, Morris CA, Das S, Kippenhan S, Mattay VS, Weinberger DR, Berman KF. Functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome. J Clin Invest. 2005 Jul;115(7):1888-95. doi: 10.1172/JCI24892. Epub 2005 Jun 9. Citation on PubMed or Free article on PubMed Central
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- Ravindran S, Nalavadi VC, Muddashetty RS. BDNF Induced Translation of Limk1 in Developing Neurons Regulates Dendrite Growth by Fine-Tuning Cofilin1 Activity. Front Mol Neurosci. 2019 Mar 20;12:64. doi: 10.3389/fnmol.2019.00064. eCollection 2019. Citation on PubMed
- Rosso S, Bollati F, Bisbal M, Peretti D, Sumi T, Nakamura T, Quiroga S, Ferreira A, Caceres A. LIMK1 regulates Golgi dynamics, traffic of Golgi-derived vesicles, and process extension in primary cultured neurons. Mol Biol Cell. 2004 Jul;15(7):3433-49. doi: 10.1091/mbc.e03-05-0328. Epub 2004 Apr 16. Citation on PubMed or Free article on PubMed Central
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- Stanyon CA, Bernard O. LIM-kinase1. Int J Biochem Cell Biol. 1999 Mar-Apr;31(3-4):389-94. doi: 10.1016/s1357-2725(98)00116-2. Citation on PubMed
- Tassabehji M. Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R229-37. doi: 10.1093/hmg/ddg299. Epub 2003 Sep 2. Citation on PubMed
- Todorovski Z, Asrar S, Liu J, Saw NM, Joshi K, Cortez MA, Snead OC 3rd, Xie W, Jia Z. LIMK1 regulates long-term memory and synaptic plasticity via the transcriptional factor CREB. Mol Cell Biol. 2015 Apr;35(8):1316-28. doi: 10.1128/MCB.01263-14. Epub 2015 Feb 2. Citation on PubMed
- Yoshioka K, Foletta V, Bernard O, Itoh K. A role for LIM kinase in cancer invasion. Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7247-52. doi: 10.1073/pnas.1232344100. Epub 2003 May 30. Citation on PubMed or Free article on PubMed Central
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