COL7

COL7‏‎ is a gene that encodes the protein Type VII collagen. This protein is a major component of the anchoring fibrils that provide structural support to the skin and other tissues. Mutations in the COL7‏‎ gene can lead to a variety of skin disorders, including Epidermolysis bullosa, a condition characterized by fragile skin that blisters easily.

Structure[edit | edit source]

The COL7‏‎ gene is located on the long (q) arm of chromosome 3 at position 22.3. The gene spans approximately 31.3 kilobases and contains 118 exons. The encoded protein, type VII collagen, is a homotrimer composed of three identical alpha chains. Each chain is composed of a central triple helical domain flanked by non-collagenous (NC) domains, NC1 and NC2.

Function[edit | edit source]

Type VII collagen, the protein encoded by the COL7‏‎ gene, is a critical component of anchoring fibrils. These fibrils are structures that provide support and stability to the skin and other tissues by anchoring the basement membrane, a thin layer of extracellular matrix, to the underlying dermis. In addition to its structural role, type VII collagen also plays a role in cell adhesion and migration.

Clinical significance[edit | edit source]

Mutations in the COL7‏‎ gene can lead to several types of Epidermolysis bullosa, a group of genetic conditions characterized by fragile skin that blisters easily. The severity of the condition can vary widely, from mild blistering that only affects the hands and feet, to severe blistering that occurs all over the body and can lead to life-threatening complications.