VWA1
Description
The VWA1 gene provides instructions for making a protein called von Willebrand factor A domain-containing protein 1. This protein plays a crucial role in collagen synthesis, a process essential for building and maintaining connective tissues throughout the body. Collagen, a fibrous protein, forms the structural framework for bones, cartilage, tendons, ligaments, and skin. The VWA1 protein interacts with other proteins involved in collagen assembly, ensuring proper formation and stability of these vital tissues.
Associated Diseases
- Ehlers-Danlos syndrome (EDS): A group of inherited disorders that affect connective tissue. Mutations in VWA1 can cause a specific type of EDS called EDS type VI (kyphoscoliotic type), characterized by joint hypermobility, scoliosis, and skeletal deformities.
- Osteogenesis imperfecta (OI): A genetic disorder causing brittle bones. While VWA1 mutations are not a primary cause of OI, they can contribute to its severity in some cases.
- Other connective tissue disorders: VWA1 gene variations may also be associated with other conditions affecting connective tissues, including vascular disorders and skin abnormalities.
Did you know?
The VWA1 gene‘s name comes from the "von Willebrand factor A domain", a protein domain found in many proteins involved in cell adhesion and matrix assembly.
