COL7A1 gene ……….. Function

The COL7A1 gene provides instructions for making proteins for assembling type VII collagen. Collagens are a family of proteins that strengthen and support connective tissues such as skin, bone, tendons, and ligaments, throughout the body. In particular, type VII collagen plays an essential role in strengthening and stabilizing the skin.

The proteins produced from the COL7A1 gene — pro-α1 (VII) chains — are the components of type VII collagen. 3 pro-α1 (VII) chains twist together to form a triple-stranded, rope like molecule known as a ‘procollagen’. Procollagen molecules are secreted by the cell and processed by enzymes to remove extra protein segments from the ends. Once these molecules are processed, they arrange themselves into long, thin bundles of mature type VII collagen.

Type VII collagen is the major component of structures in the skin — the anchoring fibrils.

As we already discuss earlier in EB disease ‘anchoring fibrils’ are found in a region known as the Epidermal Basement Membrane Zone — which is a two-layer membrane located between the top layer of skin — the epidermis and an underlying layer — the dermis. Anchoring fibrils hold the two layers of skin together by connecting the epidermal basement membrane to the dermis.

Source: www.ghr.nlm.nih.gov