Col7a1 Essay

The gene responsible for this condition is COL7A1.Mutations in this gene is the primary reason for epidermolysis bullosa. The official name of COL7A1 gene is Collagen, type VII, alpha 1. This gene is a single nucleotide variant. It is located specifically on chromosome 3: base pairs 48,564,072 to 48,595,301. COL7A1 is part of a family of gene known as collagen and also to fibronectin type III domain (Jarvikallio et al, 1997). A family of gene is a category of gene that has an essential amount of characteristics. The normal function of COL7A1 is to present instructions for creating proteins that are used to group type VII collagen. Collagen is a group of protein that helps to strengthen and support connective tissues i.e. bones, tendons, ligaments and skin. Exclusively, VII collagen plays a fundamental part in strengthening
Three pro-α1 (VII) chains coil together to produce a triple-stranded, rope like molecule recognised as a procollagen. These are molecules that are deposited by the cells and are prepared by the enzyme to remove further protein portions from the end. When these molecules are prepared, they form into long, thin array of complete type VII collagen. This gene is the major fundamental structures in the skin, they are known as anchoring fibrils (Bruckner-Tuderman et al, 1999). They are found in the epidermal basement membrane area, they are between the epidermis and dermis .Exceeding 400 mutations in this gene have been found in patients with dystrophic epidermolysis bullosa. They change the structure and interrupt the creation of type VII collagen which in turn damages the capability of securing fibrils to attach the epidermis and dermis to each other. When type VII is absent or abnormal securing fibrils cannot form well. As a result, friction can cause the two layers to separate. The separation of these layers results in blister, which can lead to great amount of