This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene.
Clicking the images or links will redirect you to a website hosted by BenchSci that provides third-party
scientific content. Neither the content nor the BenchSci technology and processes for
selection have been evaluated by us; we are providing them as-is and without warranty of any kind,
including for use or application of the Thermo Fisher Scientific products presented.