Tmax
TTC8
TTC8 (Tetratricopeptide Repeat Domain 8) is a protein-coding gene that plays a crucial role in the Bardet-Biedl syndrome (BBS), a genetic disorder affecting multiple body systems. The TTC8 gene is located on chromosome 14 in humans and is part of the BBSome complex, which is essential for the proper functioning of cilia, the hair-like structures on the surface of cells.
Function[edit | edit source]
The TTC8 protein contains multiple tetratricopeptide repeat (TPR) domains, which are involved in protein-protein interactions. These domains facilitate the assembly of the BBSome complex, a group of proteins that are critical for the trafficking of membrane proteins to the cilia. Cilia are important for various cellular processes, including signaling pathways that are crucial for development and homeostasis.
Clinical Significance[edit | edit source]
Mutations in the TTC8 gene are associated with Bardet-Biedl syndrome type 8 (BBS8). This syndrome is characterized by a range of symptoms, including retinal degeneration, obesity, polydactyly, renal abnormalities, and cognitive impairment. The dysfunction of cilia due to defective BBSome assembly leads to the diverse clinical manifestations observed in BBS.
Genetic Information[edit | edit source]
The TTC8 gene is located on the long arm of chromosome 14 at position 31.3 (14q31.3). It spans approximately 30 kilobases and consists of 23 exons. The gene is expressed in various tissues, with high expression levels in the retina, brain, and kidneys, which correlates with the symptoms observed in BBS.
Research and Studies[edit | edit source]
Research on TTC8 and its role in the BBSome complex has provided insights into the molecular mechanisms underlying Bardet-Biedl syndrome. Studies have shown that the BBSome is involved in the transport of signaling receptors to the ciliary membrane, which is crucial for the transduction of extracellular signals. Disruption of this process due to TTC8 mutations leads to the phenotypic features of BBS.
Also see[edit | edit source]
- Bardet-Biedl syndrome
- Cilia
- Tetratricopeptide repeat
- Protein-protein interactions
- Chromosome 14 (human)
Template:Bardet-Biedl syndrome
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
