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COL17A1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

COL17A1 gene

The COL17A1 gene is responsible for producing type XVII collagen, a protein critical for stabilizing skin layers, with mutations often leading to junctional epidermolysis bullosa.

Overview

The COL17A1 gene provides instructions for making a protein that is used to assemble type XVII collagen. Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone, tendons, and ligaments, throughout the body. In particular, type XVII collagen plays an essential role in strengthening and stabilizing the skin.

The protein produced from the COL17A1 gene is known as a pro-α1(XVII) chain. Three identical pro-α1(XVII) chains twist together to form a triple-stranded, ropelike molecule known as a procollagen. Procollagen molecules are processed into long, thin bundles of mature type XVII collagen.

Type XVII collagen is a major component of hemidesmosomes, which are microscopic structures on the inner surface of the top layer of skin (the epidermis). These structures help to anchor the epidermis to underlying layers of skin. Type XVII collagen is critical for the stability of hemidesmosomes, and therefore it plays an important role in holding the layers of skin together.

Health Conditions Related to Genetic Changes

Junctional epidermolysis bullosa

More than 100 mutations in the COL17A1 gene have been identified in people with junctional epidermolysis bullosa (JEB). These mutations reduce the amount of functional type XVII collagen in the skin. Without enough of this collagen, the epidermis is only weakly attached to underlying layers of skin. Friction or other minor trauma can cause the skin layers to separate, leading to the formation of blisters.

  • JEB generalized intermediate: Most COL17A1 mutations cause this milder form, where blistering may be limited to the hands, feet, knees, and elbows and often improves after the newborn period.
  • JEB generalized severe: A few individuals experience this more serious form, characterized by widespread blistering that causes life-threatening complications.

Other Names for This Gene

  • alpha 1 type XVII collagen
  • BA16H23.2
  • BP180
  • BPAG2
  • bullous pemphigoid antigen 2 (180kD)
  • COHA1_HUMAN
  • collagen type XVII alpha 1
  • collagen XVII, alpha-1 polypeptide
  • collagen, type XVII, alpha 1
  • FLJ60881
  • KIAA0204
  • LAD-1

Frequently Asked Questions

Daily care focuses on protecting the skin, preventing infection, and managing pain. This includes gentle handling, applying non-adhesive dressings to blisters and wounds, avoiding friction, and maintaining good hygiene. Nutritional support is also vital, as extensive blistering can impact feeding and nutrient absorption.
The generalized intermediate form of JEB is generally milder than the severe generalized form. While blistering is still significant and requires lifelong care, it may be less extensive and less likely to lead to severe internal complications. Individuals with this form often have a better long-term prognosis and improved quality of life compared to those with more severe types of JEB.
Infants with COL17A1-related JEB often present with extremely fragile skin that blisters easily from minor friction or trauma. These blisters can appear anywhere on the body, including the scalp, mouth, and other mucous membranes. Wounds may heal slowly, and there can be nail abnormalities or hair loss.
COL17A1-related JEB is inherited in an autosomal recessive pattern. This means an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Parents who are carriers (have one mutated copy) typically do not show symptoms. For carrier parents, there is a 25% chance with each pregnancy that their child will have JEB. Genetic counseling can provide detailed risk assessments and family planning options.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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