USH1C抗体;USH1C Antibody—艾普蒂

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     Western blot analysis using USH1C mouse mAb against  Caco-2 lysate    

  
  

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     IHC-P analysis of small intestine tissue by USH1C antibody (P15062) IHC-P was performed using sections of the formalin-fixed paraffin-embedded small intestine tissue;Result: Glandular cells are positively stained at the cytoplasm and membrane.    

  
  

The USH1C antibody is a crucial tool in studying Usher syndrome type 1C (USH1C), a rare autosomal recessive disorder causing congenital deafness, vestibular dysfunction, and progressive retinal degeneration. USH1C encodes the protein harmonin, which functions as a scaffolding component in sensory cells of the inner ear and retina, maintaining structural integrity and signal transduction. Mutations in USH1C disrupt harmonin’s interaction with other Usher-associated proteins (e.g., cadherin-23. myosin VIIa), leading to sensory cell dysfunction.

USH1C-specific antibodies are widely used to detect harmonin expression in research models (e.g., murine tissues, human cell lines) via techniques like Western blot, immunofluorescence, or immunohistochemistry. These antibodies help elucidate harmonin’s role in stereocilia bundle organization in cochlear hair cells and photoreceptor synaptic terminals, providing insights into disease mechanisms. Studies using USH1C antibodies have also explored therapeutic strategies, such as gene therapy or antisense oligonucleotides, to restore harmonin function.

Commercial USH1C antibodies are typically raised against conserved epitopes (e.g., human harmonin’s PDZ domains) to ensure cross-species reactivity. Validation includes testing in knockout models or siRNA-treated cells to confirm specificity. Their application extends to diagnostic screening and preclinical research, bridging molecular understanding with potential clinical interventions for Usher syndrome and related sensory disorders.