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

Did you know?

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


Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.