Collagen, type XVII, alpha 1
Collagen, Type XVII, Alpha 1
Collagen, type XVII, alpha 1 is a protein that in humans is encoded by the COL17A1 gene. It is a member of the collagen family, which is a group of naturally occurring proteins. Collagen type XVII is a transmembrane protein and is a component of the hemidesmosome, a structure that helps attach the epidermis to the dermis in the skin.
Structure
Collagen type XVII is an unusual collagen in that it is a transmembrane protein, meaning it spans the cell membrane. It is composed of a long extracellular domain, a transmembrane domain, and a short intracellular domain. The extracellular domain is known as the ectodomain and can be cleaved to form a soluble form of the protein.
Function
Collagen type XVII plays a crucial role in the stability and integrity of the skin. It is involved in the formation of hemidesmosomes, which are structures that anchor the basal layer of the epidermis to the underlying basement membrane. This anchoring is essential for maintaining the structural integrity of the skin and for resisting mechanical stress.
Clinical Significance
Mutations in the COL17A1 gene can lead to a rare genetic disorder known as junctional epidermolysis bullosa (JEB). This condition is characterized by fragile skin that blisters easily in response to minor injury or friction. The blisters occur because the epidermis is not properly anchored to the dermis, leading to separation of these layers.
Collagen type XVII is also a target in certain autoimmune diseases, such as bullous pemphigoid, where the immune system mistakenly attacks components of the hemidesmosomes, leading to blistering of the skin.
Research
Research into collagen type XVII is ongoing, with studies focusing on its role in skin diseases, wound healing, and its potential as a therapeutic target. Understanding the molecular mechanisms of collagen type XVII function and its interactions with other proteins is crucial for developing treatments for related skin disorders.
Also see
| Collagen | |
|---|---|
 |
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| Overview | |
| Type | Protein |
| Function | Structural component of connective tissues |
| Location | Skin, tendons, ligaments, cartilage, bone, blood vessels |
| Types | |
| Related Topics | |
| See Also | |
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