Claim: USH2A gene encodes the protein Usherin, which is important in development and homeostasis of the inner ear and retina and contains laminin EGF motifs; mutations within this gene have been associated with Usher syndrome type IIa.
Evidence: Usherin is a protein that in humans is encoded by the USH2A gene. The encoded basement membrane-associated protein may be important in development and homeostasis of the inner ear and retina. This gene encodes the protein Usherin that contains laminin EGF motifs, a pentraxin domain, and many fibronectin type III motifs. Mutations within this gene have been associated with Usher syndrome type IIa.