von Willebrand factor A domain-containing protein 1 (VWA1)

The von Willebrand factor A domain-containing protein 1 (VWA1) is an extracellular matrix protein that belongs to the von Willebrand factor A (VWFA) domain superfamily. It is also known as WARP and is characterized by its high-affinity binding to structural extracellular proteins such as collagen VI and perlecan. VWA1 is predominantly expressed in muscle and peripheral nerve tissues, where it plays a crucial role in maintaining neuromuscular structure and the assembly of the pericellular matrix. Loss-of-function mutations in the VWA1 gene are linked to neuromuscular disorders marked by muscle weakness as well as contributions to congenital craniofacial disorders such as hemifacial microsomia. While VWA1 is structurally and functionally significant in extracellular matrix biology and tissue stability, there are no current indications that it acts as a direct therapeutic target, nor are there approved drugs specifically targeting this protein[2][4][6].

Other names

FLJ22215WARPHMNMYOHMNR74932416A11RIKvon Willebrand factor A domain-related protein