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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
Antibody detects endogenous levels of total Harmonin.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: alternatively spliced; scaffold protein with pdz domains; antigen NY-CO-38/NY-CO-37; autoimmune enteropathy-related antigen AIE-75; harmonin a1; PDZ domain protein; PDZ domain-containing protein; PDZ-73 protein; renal carcinoma antigen NY-REN-3; unnamed protein product; Usher syndrome 1C (autosomal recessive severe) isoform USH1C_1; Usher syndrome 1C (autosomal recessive severe) isoform USH1C_2; Usher syndrome 1C (autosomal recessive, severe); Usher syndrome 1C homolog; usher syndrome type-1C protein; usher syndrome type-1C protein homolog
基因别名: 2010016F01Rik; AIE-75; DFNB18; DFNB18A; harmonin; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; PDZD7C; ush1cpst
UniProt ID: (Human) Q9Y6N9, (Mouse) Q9ES64
Entrez Gene ID: (Human) 10083, (Rat) 308596, (Mouse) 72088