CACNB2
CACNB2 is a gene in humans that encodes the beta-2 subunit of the voltage-dependent calcium channel complex. This complex plays a crucial role in the release of neurotransmitters from neurons and in muscle contraction. Mutations in this gene have been associated with various disorders, including Brugada syndrome, idiopathic generalized epilepsy, and autism.
Function[edit | edit source]
The CACNB2 gene provides instructions for making a protein that is part of a family of proteins known as voltage-gated calcium channels. These channels, which are located in the cell membrane, control the flow of positively charged calcium atoms (calcium ions) into cells. The protein produced from the CACNB2 gene forms a subunit of the channel that helps regulate its activity.
Clinical significance[edit | edit source]
Mutations in the CACNB2 gene have been associated with a variety of disorders. These include Brugada syndrome, a condition that disrupts the heart's normal rhythm and can lead to irregular heartbeats (arrhythmias), fainting, and sudden death. Mutations in this gene have also been found in people with idiopathic generalized epilepsy, a group of related conditions characterized by recurrent seizures. In addition, some studies suggest that changes in the CACNB2 gene may be associated with autism, a developmental disorder that affects communication and behavior.
See also[edit | edit source]
References[edit | edit source]
| CACNB2 Resources | |
|---|---|
|
 |
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 The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes.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: Prab R. Tumpati, MD
