SCN1B
SCN1B is a gene that in humans encodes the beta subunit of a voltage-gated sodium channel. This gene is part of the sodium channel, voltage-gated, type I, beta subunit (SCN1B) family, and is involved in the propagation of action potentials in neurons and muscle. This gene may also be associated with epilepsy and other neurological disorders.
Function[edit | edit source]
The protein encoded by the SCN1B gene is a subunit of a voltage-gated sodium channel, which are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. Voltage-gated sodium channels play a key role in excitability of neurons and muscle, and mutations in this gene have been associated with several neurological disorders.
Clinical significance[edit | edit source]
Mutations in the SCN1B gene have been associated with a variety of conditions, including Generalized epilepsy with febrile seizures plus (GEFS+), Dravet syndrome, and cardiac arrhythmia. In particular, GEFS+ and Dravet syndrome are forms of epilepsy, while cardiac arrhythmia is a condition characterized by an irregular heartbeat.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
SCN1B 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
WikiMD is not a substitute for professional medical advice. 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