COL6A3 : collagen type VI alpha 3 chain

The COL6A3 Gene: A Vital Player in Collagen Production

Description:

The COL6A3 gene holds the blueprint for creating the alpha(α)3 chain of type VI collagen, a flexible protein found in the extracellular matrix (ECM), the intricate latticework surrounding cells. This chain joins forces with chains produced by other genes to form complete type VI collagen molecules.

Associated Diseases:

Mutations in the COL6A3 gene are linked to several genetic disorders that affect the ECM, including:

• Bethlem Myopathy: Affects skeletal muscles, causing muscle weakness and impaired movement
• Ullrich Muscular Dystrophy: A more severe form of Bethlem myopathy with additional features such as respiratory difficulties
• Keratoconus: A progressive eye condition that leads to the cornea becoming cone-shaped and impairs vision

Did you Know ?

Type VI collagen accounts for about 5-10% of the total collagen in the human body, highlighting its significance in maintaining structural integrity.