Usher Syndrome Protein 2A (USH2A)

This gene encodes the protein Usherin that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The encoded basement membrane-associated protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa. Alternatively spliced transcript variants that encode different isoforms have been described.The USH2A gene encodes a 1,551-amino acid protein with a predicted molecular mass of 171.5 kD. The USH2A protein sequence contains laminin epidermal growth factor and fibronectin type III motifs, which are most commonly observed in proteins comprising components of the basal lamina and extracellular matrices and in cell adhesion molecules.