USH1C polyclonal antibody (Cat # PAB6589) (10 ug/mL) staining of paraffin embedded human kidney. Microwaved antigen retrieval with citrate buffer pH 6, HRP-staining. (Data have been obtained with EB06287 from a previous batch).
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. [provided by RefSeq