| Primary Identifier | IPR064702 | Type | Domain |
| Short Name | CEN_USH1G |
| description | This entry corresponds to the central region (CEN) of USH1G, which contains the conserved regions CEN1 and CEN2. CEN is directly responsible for binding to the MYO7A MyTH4-FERM tandemUsher syndrome type-1G protein (USH1G), also known as SANS (scaffold protein containing ankyrin repeats and SAM domain), is a multifunctional anchoring/scaffolding protein that is part of the functional network formed by USH1C, CDH23 and MYO7A, mediating mechanotransduction in cochlear hair cells. It regulates Magi2-mediated endocytosis []and is required for normal development and maintenance of cochlear hair cell bundles. Mice lacking USH1G exhibit loss of tip-links, defects in stereocilia morphology and organization, loss of mechanotransduction currents, and perturbations to hearing and balance []. Mutations in the human USH1G gene cause Usher syndrome 1G, a genetically heterogeneous condition characterised by the association of retinitis pigmentosa with sensorineural deafness [, , , , , ]. |
