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Search results 1 to 1 out of 1 for Myo7a

Category restricted to ProteinDomain (x)

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Category: ProteinDomain
Type Details Score
Protein Domain
Type: Domain
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.