ⓘ USH2A

                                     

ⓘ USH2A

Usherin is a protein that in humans is encoded by the USH2A gene.

This gene encodes a protein that Usherin contains laminin EGF motifs, the pentraxin domain, and many fibronectin type III motifs. Coded basement membrane-associated proteins may be important in development and homeostasis of the inner ear and retina. Mutations in this gene have been associated with usher syndrome type IIA. Alternative spliced transcript variants encoding different isoforms have been described.