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usherin


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A type I transmembrane protein (5202 aa) that is defective in Usher's syndrome (type 2A) and retinitis pigmentosa type 39. Usherin interacts with collagen IV and fibronectin in the basal lamina in many tissues and also with harmonin, whirlin, and ninein-like protein (NINL). It is probably a component of the interstereocilia linkages in inner ear sensory cells; in the retina it is present in the basal lamina just beneath the retinal pigment epithelial cells.

Subjects: Medicine and Health.


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