C7

Description

The C7 gene, also known as the collagen type VII alpha 1 chain gene, plays a critical role in the formation and maintenance of anchoring fibrils, specialized structures that connect the epidermis (outer layer of skin) to the dermis (inner layer). These fibrils are essential for providing structural support and integrity to the skin, ensuring its proper attachment to underlying tissues. Mutations in the C7 gene can disrupt the formation or function of anchoring fibrils, leading to a range of skin disorders characterized by blistering, fragility, and impaired wound healing.

Associated Diseases

• Dystrophic Epidermolysis Bullosa (DEB)
• Kindler Syndrome
• Junctional Epidermolysis Bullosa (JEB)
• Herlitz Junctional Epidermolysis Bullosa (H-JEB)

Did you know?

C7 gene mutations can manifest in different ways, leading to a spectrum of skin disorders with varying severity. This highlights the complex interplay between genetic variations and disease presentation.