COL6A2 : collagen type VI alpha 2 chain
Description
The COL6A2 (collagen type VI alpha 2 chain) is a protein-coding gene located on chromosome 21.
The COL6A2 gene provides instructions for making a component of type VI collagen, a flexible protein present in the space surrounding cells. This protein, the alpha(α)2(VI) chain, combines with chains from other genes to form a complete type VI collagen molecule. Collagens are found in the extracellular matrix, a network between cells that offers structural support. Type VI collagen is located in the extracellular matrix surrounding skeletal muscle cells and connective tissue cells, providing strength and flexibility to structures like skin and joints. The extracellular matrix is essential for cell stability and growth. Research suggests that type VI collagen connects basement membranes, thin sheet-like structures within the extracellular matrix, to nearby cells.
COL6A2 encodes a protein that acts as a cell-binding protein, contributing to the structural integrity and communication between cells.
COL6A2 is also known as BTHLM1, BTHLM1B, PP3610, UCMD1, UCMD1B.
Associated Diseases
- Bethlem myopathy 1B
- Ullrich congenital muscular dystrophy
- Bethlem muscular dystrophy
- Myosclerosis, autosomal recessive
- Ullrich congenital muscular dystrophy 1B
- Limb-girdle muscular dystrophy
- Collagen VI-related myopathy
