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.
Function[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
 | This medical article is a stub. You can help WikiMD by expanding it. |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Kondreddy Naveen
