BCL7A

BCL7A is a gene that encodes a protein belonging to the BCL7 family. The BCL7A protein is a component of the SWI/SNF complex, which plays a crucial role in gene expression and DNA repair. Mutations in this gene have been associated with Williams syndrome, a developmental disorder, and are also implicated in certain types of cancer, including lymphoma and breast cancer.

Function

The BCL7A gene is located on chromosome 12 and is part of the BCL7 family, which also includes BCL7B and BCL7C. The protein encoded by this gene is a component of the SWI/SNF complex, a multi-subunit protein complex that uses the energy of ATP hydrolysis to remodel chromatin structure and regulate gene expression. The SWI/SNF complex is also involved in DNA repair processes.

Clinical significance

Mutations in the BCL7A gene have been associated with Williams syndrome, a developmental disorder characterized by mild to moderate intellectual disability, distinctive facial features, and a unique personality profile. The BCL7A gene is one of several genes deleted in individuals with this syndrome.

In addition, BCL7A has been implicated in cancer. It is frequently deleted in patients with lymphoma and breast cancer, suggesting that it may function as a tumor suppressor gene. Further research is needed to fully understand the role of BCL7A in cancer development and progression.

See also

• SWI/SNF
• Williams syndrome
• Tumor suppressor gene