FIGURE: 1 / 1
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.
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Protein Aliases: Antigen NY-CO-38/NY-CO-37; Autoimmune enteropathy-related antigen AIE-75; Harmonin; PDZ domain-containing protein; PDZ-73 protein; Protein PDZ-73; Renal carcinoma antigen NY-REN-3; Usher syndrome 1C (autosomal recessive, severe); Usher syndrome 1C homolog; Usher syndrome type-1C protein; Usher syndrome type-1C protein homolog
Gene Aliases: 2010016F01Rik; AIE-75; AIE75; DFNB18; DFNB18A; harmonin; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; PDZD7C; USH1C; ush1cpst
Molecular Function: cytoskeletal protein