Recombinant Mouse Von Willebrand Factor A Domain-Containing Protein 1 (Vwa1)

In mice, Von Willebrand Factor A Domain-Containing Protein 1 (Vwa1) is an extracellular matrix protein that interacts with collagen VI and perlecan, two proteins affected in hereditary neuromuscular disorders. Vwa1 is expressed in muscle and peripheral nerve, and its deficiency can compromise peripheral nerves. Bi-allelic truncating mutations in Vwa1 have been identified as the molecular cause of a neuromuscular disorder characterized by muscle weakness. Vwa1 is also involved in cartilage structure and function, and its role in matrix assembly has been implicated in various physiological processes. Additionally, Vwa1 has been studied in the context of craniofacial development, where it supports the proliferation of cranial neural crest cells and the organization of pharyngeal chondrocytes. Overall, Vwa1 is a multifunctional protein with diverse applications in research, particularly in understanding neuromuscular and skeletal disorders.