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     Red: Control Antigen (100ng) Purple: Antigen (10ng), Green: Antigen (50ng) Blue: Antigen (100ng),    

  
  

The ELP1 antibody targets the ELP1 (Elongator Complex Protein 1), also known as IKBKAP or IKAP, a critical subunit of the Elongator complex. This multifunctional protein complex plays roles in transcriptional regulation, tRNA modification, and cytoskeletal dynamics. ELP1 is particularly significant in neuronal development and function, as mutations in the ELP1 gene are linked to familial dysautonomia (FD), a rare autosomal recessive disorder classified as hereditary sensory and autonomic neuropathy type III (HSAN III). FD is characterized by progressive degeneration of sensory and autonomic neurons, leading to symptoms like cardiovascular instability, gastrointestinal dysfunction, and impaired pain perception.

ELP1 antibodies are essential tools in studying FD pathogenesis, enabling detection of ELP1 expression levels, localization, and interactions in cellular and animal models. They are used in techniques such as Western blotting, immunohistochemistry, and immunofluorescence to explore tissue-specific ELP1 depletion or dysfunction. Research utilizing these antibodies has revealed that ELP1 mutations cause exon skipping in transcripts, leading to truncated proteins and reduced functional ELP1 in neuronal tissues. This molecular insight aids in understanding how ELP1 deficiency disrupts neurodevelopment and cellular stress responses. Additionally, ELP1 antibodies support drug discovery efforts aimed at modulating ELP1 splicing or stabilizing the protein, offering potential therapeutic avenues for FD and related neurodegenerative conditions.