Search results for abx003255

Harmonin (USH1C) Antibody, Abbexa, abx003255

USH1C Antibody is a Rabbit Polyclonal antibody against USH1C. 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.