BCL11A

BCL11A is a gene that encodes a zinc finger protein and acts as a transcriptional repressor. It is involved in the development of the nervous system and hematopoiesis, the formation of blood cellular components.

Location of the BCL11A gene on chromosome 2.

Function

The BCL11A gene provides instructions for making a protein that is found in many tissues and cell types, but is most abundant in the brain and immune system cells. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of certain genes.

Role in Hemoglobin Switching

The BCL11A protein plays a critical role in the control of hemoglobin production. Hemoglobin is the protein in red blood cells that carries oxygen. Before birth, the developing fetus produces a form of hemoglobin known as fetal hemoglobin. After birth, the body switches to producing a different form of hemoglobin known as adult hemoglobin. The BCL11A protein helps control this switch by repressing the production of fetal hemoglobin and promoting the production of adult hemoglobin.

Clinical Significance

Mutations in the BCL11A gene have been associated with intellectual disability, autism, and seizures. In addition, variations in the BCL11A gene have been associated with persistent fetal hemoglobin (HPFH), a condition in which fetal hemoglobin production continues after birth. This condition can be beneficial for individuals with sickle cell disease or beta-thalassemia, as the presence of fetal hemoglobin can reduce the severity of these conditions.

Research

Research is ongoing to understand the role of BCL11A in health and disease. Some studies are investigating the possibility of using BCL11A as a therapeutic target for treating sickle cell disease and beta-thalassemia. By inhibiting the function of BCL11A, it may be possible to increase the production of fetal hemoglobin and reduce the symptoms of these diseases.

See Also

• Hemoglobin
• Sickle cell disease
• Beta-thalassemia
• Intellectual disability
• Autism
• Seizures