COL17A1 : collagen type XVII alpha 1 chain

Description

The COL17A1 gene provides instructions for making collagen type XVII, a protein crucial for maintaining the structural integrity of skin and eyes. This collagen acts as a ‘glue‘ connecting the epidermis (outer layer of skin) to the dermis (inner layer) and plays a vital role in forming the basement membrane, a thin layer that supports and separates tissues. Mutations in the COL17A1 gene can lead to various skin and eye disorders.

Associated Diseases

• Junctional epidermolysis bullosa (JEB)
• Dystrophic epidermolysis bullosa (DEB)
• Herlitz junctional epidermolysis bullosa (H-JEB)
• Epidermolysis bullosa simplex (EBS)
• Kindler syndrome
• Ocular albinism

Did you know?

Mutations in COL17A1 can cause a range of disease severities, from mild skin blistering to life-threatening conditions like H-JEB.