GNB1
From WikiMD's Wellness Encyclopedia
GNB1[edit | edit source]
GNB1 is a gene that encodes the beta subunit of heterotrimeric G proteins, which are involved in transmitting chemical signals from outside the cell to the inside. This gene plays a crucial role in various signaling pathways and is essential for normal cellular function.
Structure[edit | edit source]
The GNB1 gene is located on chromosome 1 in humans. It encodes the beta 1 subunit of the G protein complex, which is a part of the larger family of G protein-coupled receptors (GPCRs). The beta subunit, along with the gamma subunit, forms a stable dimer that is essential for the activation of the alpha subunit and subsequent signal transduction.
Function[edit | edit source]
G proteins are involved in transmitting signals from a variety of stimuli outside a cell to its interior. The beta subunit encoded by GNB1 is crucial for the proper functioning of these proteins. It helps in:
- Stabilizing the G protein complex.
- Facilitating the interaction between the alpha subunit and the receptor.
- Modulating the activity of downstream effectors such as adenylate cyclase and phospholipase C.
Clinical Significance[edit | edit source]
Mutations in the GNB1 gene have been associated with various disorders. Some of these include:
- GNB1 encephalopathy: A rare neurodevelopmental disorder characterized by developmental delay, intellectual disability, and movement disorders.
- Certain types of cancer: Alterations in G protein signaling pathways, including those involving GNB1, have been implicated in oncogenesis.
Research[edit | edit source]
Ongoing research is focused on understanding the precise mechanisms by which GNB1 mutations lead to disease. Studies are also exploring potential therapeutic targets within the G protein signaling pathways for the treatment of related disorders.
See Also[edit | edit source]
References[edit | edit source]
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
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 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.
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