分子量：Calculated MW: 45kDa/58kDa/60kDa/62kDa/101kDa
Observed MW: 73kDa

细胞定位：Cytoplasm, cytoskeleton, cytosol

稀释方法：WB 1:200 - 1:2000
IHC 1:50 - 1:200

总结：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.