| Primary Identifier | IPR037602 | Type | Domain |
| Short Name | USH1G_SAM |
| description | pre-mRNA splicing regulator USH1G (also known as SANS) is a multifunctional scaffold protein. It regulates Magi2-mediated endocytosis []and interacts with MYO7A and USH1C []. Mice lacking USH1G exhibit a loss of tip-links, defects in stereocilia morphology and organization, loss of mechanotransduction currents, and perturbations to hearing and balance []. Mutations in human USH1G gene cause Usher syndrome 1G (USH1G), a genetically heterogeneous condition characterised by the association of retinitis pigmentosa with sensorineural deafness []. USH1G has an N-terminal ankyrin repeat region and a C-terminal SAM domain []. The SAM domain is a putative protein-protein interaction domain. |
