Also known asBTHLM1, OPLL, UCHMD1
COL6A1 (Collagen Type VI Alpha 1 Chain) is a gene that codes for one of the three polypeptide chains that make up the collagen type VI protein. Collagen type VI is a major component of the extracellular matrix of various connective tissues, including skeletal muscle, skin, and cartilage. It plays a critical role in maintaining tissue structure and function.
The COL6A1 gene is located on chromosome 21 in humans and contains 55 exons. Mutations or alterations in the COL6A1 gene have been linked to various muscular dystrophies, including Ullrich congenital muscular dystrophy and Bethlem myopathy, which are characterized by muscle weakness and wasting.
Collagen type VI is composed of three alpha chains, including the alpha 1 chain (encoded by COL6A1), the alpha 2 chain (encoded by COL6A2), and the alpha 3 chain (encoded by COL6A3). These chains combine to form a triple helical structure that is important for the assembly of collagen fibers in the extracellular matrix.
In addition to its structural role, collagen type VI has been shown to play a role in cellular signaling and tissue repair processes. It has also been implicated in the pathogenesis of various conditions, including cancer, inflammation, and fibrosis.
Overall, the COL6A1 gene plays a critical role in the synthesis and assembly of collagen type VI, which is essential for the structure and function of various connective tissues in the body. Its study has potential implications for understanding and treating various muscular dystrophies and other conditions related to collagen production and function.