CLIP2
CAP-Gly domain containing linker protein 2
Normal Function
Health Conditions Related to Genetic Changes
Williams syndrome
The CLIP2 gene is located in a region of chromosome 7 that is deleted in people with Williams syndrome. As a result of this deletion, people with this condition are missing one copy of the CLIP2 gene in each cell. Studies suggest that the loss of this gene may contribute to some of the characteristic features of Williams syndrome, including the unique behavioral traits and other symptoms involving the nervous system. A deletion of this gene probably disrupts the normal regulation of the cytoskeleton and affects the structure of nerve cells in the brain. It is not known how these changes may be related to the characteristic signs and symptoms of Williams syndrome.
More About This Health ConditionRelated Conditions
Williams syndrome
Health Conditions Related to Genetic Changes
The CLIP2 gene is located in a region of chromosome 7 that is deleted in people with Williams syndrome. As a result of this deletion, people with this condition are missing one copy of the CLIP2 gene in each cell. Studies suggest that the loss of this gene may contribute to some of the characteristic features of Williams syndrome, including the unique behavioral traits and other symptoms involving the nervous system. A deletion of this gene probably disrupts the normal regulation of the cytoskeleton and affects the structure of nerve cells in the brain. It is not known how these changes may be related to the characteristic signs and symptoms of Williams syndrome.