Disease-gene associations mined from literature

Literature associating USH2A and Leber congenital amaurosis 10

USH2A [ENSP00000305941]

Usherin; 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.

Synonyms:  USH2A,  USH2Ap,  hUSH2A,  O75445,  O75445p ...

Linkouts:  STRING  Pharos  UniProt  OMIM