Collagen, type VI, alpha 3
Collagen, Type VI, Alpha 3[edit | edit source]
Collagen, type VI, alpha 3, also known as COL6A3, is a protein that in humans is encoded by the COL6A3 gene. This protein is a component of the extracellular matrix and plays a crucial role in maintaining the structural integrity of various tissues.
Structure[edit | edit source]
Collagen type VI is a heterotrimeric protein composed of three different alpha chains: alpha 1(VI), alpha 2(VI), and alpha 3(VI). The alpha 3 chain is the largest and most complex of the three, containing multiple domains that contribute to its function in the extracellular matrix. The COL6A3 gene is located on chromosome 2 and encodes the alpha 3 chain of type VI collagen.
Function[edit | edit source]
Type VI collagen is primarily found in the extracellular matrix of connective tissues. It forms a network of microfibrils that provide structural support and stability to tissues. The alpha 3 chain is essential for the assembly and secretion of type VI collagen microfibrils. These microfibrils interact with other matrix components, such as collagen type I, collagen type IV, and fibronectin, to maintain tissue integrity and function.
Clinical Significance[edit | edit source]
Mutations in the COL6A3 gene have been associated with several muscular and connective tissue disorders, including Bethlem myopathy and Ullrich congenital muscular dystrophy. These conditions are characterized by muscle weakness, joint contractures, and skin abnormalities. The severity of symptoms can vary widely, depending on the specific mutation and its impact on collagen function.
Research and Therapeutic Approaches[edit | edit source]
Research into COL6A3 and its associated disorders is ongoing, with efforts focused on understanding the molecular mechanisms underlying these conditions and developing potential therapies. Gene therapy, exon skipping, and the use of small molecules to enhance collagen function are among the strategies being explored.
Also see[edit | edit source]
- Collagen
- Extracellular matrix
- Connective tissue
- Muscular dystrophy
- Bethlem myopathy
- Ullrich congenital muscular dystrophy
| Collagen | |
|---|---|
 |
|
| Overview | |
| Type | Protein |
| Function | Structural component of connective tissues |
| Location | Skin, tendons, ligaments, cartilage, bone, blood vessels |
| Types | |
| Related Topics | |
| See Also | |
| Types | |
|---|---|
| National/International Organizations | |
| National/International Events |
|
| Clinical trials | |
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
