STX11
STX11 is a gene that encodes a member of the syntaxin family. Syntaxins are involved in the docking of synaptic vesicles at the presynaptic membrane. The encoded protein is a key component of the endosomal SNARE complex and may play a role in intracellular trafficking. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 4.
Function[edit | edit source]
STX11 is a member of the syntaxin family. Syntaxins are proteins that are involved in the docking of synaptic vesicles at the presynaptic membrane. The protein encoded by STX11 is a key component of the endosomal SNARE complex, which is a group of proteins that play a crucial role in intracellular trafficking.
Clinical significance[edit | edit source]
Mutations in the STX11 gene are associated with familial hemophagocytic lymphohistiocytosis type 4 (FHL4). FHL4 is a rare, life-threatening immune disorder that is usually diagnosed in infancy or early childhood. The disorder is characterized by fever, enlarged liver or spleen, low blood counts, and neurological abnormalities.
See also[edit | edit source]
- Syntaxin
- Synaptic vesicle
- Presynaptic membrane
- Endosomal SNARE complex
- Intracellular trafficking
- Familial hemophagocytic lymphohistiocytosis
References[edit | edit source]
External links[edit | edit source]
| STX11 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 The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes.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
