Collagen, type VI, alpha 3
Collagen, Type VI, Alpha 3
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
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
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
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
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
- 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 | |
| Muscular dystrophy | ||||||||
|---|---|---|---|---|---|---|---|---|
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