Collagen type VI alpha 1 chain (COL6A1)

Collagen type VI alpha 1 chain (COL6A1) encodes the α1 subunit of collagen VI, an essential extracellular matrix protein that assembles into a microfibrillar network to maintain tissue structural integrity and regulate cell–matrix interactions. Type VI collagen is especially important in skeletal muscle, cartilage, tendon, bone, and basement membranes, where it provides mechanical support, links basement membranes to cells, and contributes to cytoprotective pathways (modulating apoptosis, autophagy, and stem cell renewal). Defects in COL6A1 cause a spectrum of muscle and connective tissue diseases, most prominently Bethlem myopathy and Ullrich congenital muscular dystrophy, by disrupting microfibril assembly and cell–matrix signaling. COL6A1 serves as a diagnostic marker for certain myopathies and is under investigation as a therapeutic target and biomarker for tissue engineering and regenerative medicine.

Other names

Collagen alpha-1(VI) chainCOL6A1BTHLM1BTHLM1AOPLLUCHMD1UCHMD1AEpididymis secretory sperm binding proteinCollagen VI, alpha-1 polypeptideCollagen, type VI, alpha 1

Potential drugs may act by regulating autophagy or stabilizing extracellular matrix interactions. Modulation of apoptotic and mechanotransductive signaling in muscle fibers.