This gene encodes a scaffold protein that functions in thenassembly of Usher protein complexes. The protein contains PDZndomains, a coiled-coil region with a bipartite nuclear localizationnsignal and a PEST degradation sequence. Defects in this gene arenthe cause of Usher syndrome type 1C and non-syndromic sensorineuralndeafness autosomal recessive type 18. Multiple transcript variantsnencoding different isoforms have been found for this gene.
应用类型
WB
免疫原
This USH1C antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 1-30 amino acids from the N-terminal region of human USH1C.
