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.
