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Involved in hearing and vision as member of the USH2 complex. In the inner ear, required for the maintenance of the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport.
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Protein Aliases: USH2A; usher syndrome 2A; Usher syndrome 2A (autosomal recessive, mild); Usher syndrome type IIa protein; Usher syndrome type-2A protein; Usherin
Gene Aliases: dJ1111A8.1; RGD1560269; RP39; US2; USH2; USH2A
UniProt ID: (Human) O75445
Entrez Gene ID: (Human) 7399, (Rat) 289369
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