LIMK1

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.

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.