COL3A1

Description

The COL3A1 gene provides instructions for making collagen type III, a fibrous protein that plays a crucial role in providing structural support to various tissues, including blood vessels, skin, internal organs, and tendons. This protein forms a network of fibers that gives these tissues their flexibility and strength. Mutations in the COL3A1 gene can disrupt the production of functional collagen type III, leading to a range of health issues.

Associated Diseases

• Ehlers-Danlos syndrome (EDS) type IV
• Vascular Ehlers-Danlos syndrome (vEDS)
• Arterial tortuosity syndrome
• Congenital contractural arachnodactyly (CCA)
• Cutaneous fragility syndrome

Did you know?

Mutations in the COL3A1 gene can cause a wide spectrum of clinical presentations, ranging from mild to life-threatening.