COL6A1 : collagen type VI alpha 1 chain
Description
The COL6A1 (collagen type VI alpha 1 chain) is a protein-coding gene located on chromosome 21.
The COL6A1 gene provides instructions for making one component of type VI collagen, a flexible protein found in the space surrounding cells. Specifically, COL6A1 produces the alpha(α)1(VI) chain of type VI collagen, which combines with chains from other genes to form a complete type VI collagen molecule. Collagens reside in the extracellular matrix, a network supporting cells and providing structure. Type VI collagen is found in the extracellular matrix surrounding skeletal muscle cells and connective tissue cells, contributing to the strength and flexibility of tissues like skin and joints. The extracellular matrix is crucial for cell stability and growth, and research suggests that type VI collagen links basement membranes, thin sheet-like structures within the extracellular matrix, to neighboring cells.
COL6A1 encodes a protein component of type VI collagen, which acts as a cell-binding protein, facilitating cell adhesion and interactions within the extracellular matrix.
COL6A1 is also known as BTHLM1, BTHLM1A, OPLL, UCHMD1, UCHMD1A.
Associated Diseases
- Bethlem muscular dystrophy
- Ullrich congenital muscular dystrophy 1
- Ullrich congenital muscular dystrophy
- Bethlem myopathy 1A
- Limb-girdle muscular dystrophy
- Collagen VI-related myopathy
