DISEASES

Disease-gene associations mined from literature

Literature associating USH1G and Usher syndrome type 2D

USH1G [ENSP00000480279]

Scaffold protein containing ankyrin repeats and SAM domain; Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing; Ankyrin repeat domain containing

Synonyms:  USH1G,  USH1Gp,  hUSH1G,  J3KSN5,  Q495M9 ...

Linkouts:  STRING  Pharos  UniProt