Functions Of Type Vii Collagen - 2128 Words

Pathophysiology The COL7A1 gene contains the instruction manual for making proteins that are used for strengthening and supporting the connective tissue in the body which includes tendons, ligaments, bones and skin. â€Å"The proteins produced from the COL7A1 gene, called pro-ÃŽ ±1 (VII) chains, are the components of type VII collagen.† (http://ghr.nlm.nih.gov/gene/COL7A1) When three pro-ÃŽ ±1 (VII) chains twist together, they form a triple-stranded molecule called a procollagen, these molecules are secreted by the cell and are processed by enzymes which remove extra protein segments. When these procollagen molecules are processed by getting rid of the extra segment on the ends, they then can arrange themselves into longer, thinner bundles of mature type VII collagen. Type VII collagen is the major component of anchoring fibrils which is found in the basement membrane zone, which is a two-layer membrane found between the epidermis, and the dermis. â€Å"Anchoring fibrils hold the two layers of skin together by connecting the epidermal basement membrane to the dermis.† (http://ghr.nlm.nih.gov/gene/COL7A1) Without the anchoring fibrils holding those layers together the skin become extremely fragile and blistering occurs with the slightest of trauma, heat, rubbing or friction. Injury may also occur from the removal of adhesive tape or tight clothing. Children with EB are called â€Å"Butterfly Children† because their skin is so fragile, like a butterfly’s wings. 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