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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.
2010016F01Rik; AIE75; AIE-75; Antigen NY-CO-38/NY-CO-37; autoimmune enteropathy-related antigen AIE-75; DFNB18; DFNB18A; harmonin; harmonin a1; harmonin pseudogene; hypothetical protein LOC530709; hypothetical protein LOC564412; NY-CO-37; NY-CO-38; PDZ domain-containing protein; PDZ-45; PDZ73; PDZ-73; PDZ-73 protein; PDZ-73/NY-CO-38; PDZD7C; Protein PDZ-73; Renal carcinoma antigen NY-REN-3; USH1 protein network component harmonin; Ush1c; ush1cpst; Usher syndrome 1C; Usher syndrome 1C (autosomal recessive, severe); Usher syndrome 1C homolog; usher syndrome type-1C protein; Usher syndrome type-1C protein homolog; zgc:136806
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100 µg
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100 µg
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