BCL11B

BCL11B is a gene that encodes a protein in humans. This protein is a transcription factor that plays a crucial role in the development of various cell types, including T cells and neurons.

Function

The BCL11B gene provides instructions for making a protein that is involved in the development and function of T lymphocytes, which are specialized white blood cells that play a central role in the immune response. The BCL11B protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of certain genes.

In T cells, the BCL11B protein regulates genes that are essential for the cells' development and function. The protein is also involved in the development of the nervous system, where it helps regulate genes involved in the growth and maturation of neurons.

Clinical significance

Mutations in the BCL11B gene have been associated with various health conditions. For example, deletions or mutations of this gene have been found in individuals with intellectual disability, autism, and seizures. Additionally, abnormal expression of BCL11B has been implicated in several types of cancer, including T-cell acute lymphoblastic leukemia and lung cancer.

Research

Research is ongoing to better understand the role of BCL11B in health and disease. For example, studies are investigating how mutations in the BCL11B gene contribute to the development of cancer and neurological disorders. Other research is focused on developing therapies that target the BCL11B protein, with the aim of treating diseases associated with this gene.

See also

• B-cell CLL/lymphoma 11B
• Transcription factor
• T lymphocytes
• Gene