MKKS抗体—艾普蒂

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     The image is immunohistochemistry of paraffin-embedded Human colon cancer tissue using P01551(MKKS Antibody) at dilution 1/50. (Original magnification: ×200)    

  
  

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     The image is immunohistochemistry of paraffin-embedded Human brain  tissue using P01551(MKKS Antibody) at dilution 1/50. (Original magnification: ×200)    

  
  

MKKS (McKusick-Kaufman syndrome) antibodies are tools used to study the MKKS protein, encoded by the MKKS gene, which plays a role in ciliary function and intracellular trafficking. Initially linked to McKusick-Kaufman syndrome (a rare autosomal recessive disorder characterized by hydrometrocolpos, polydactyly, and congenital heart defects), MKKS was later found to associate with Bardet-Biedl syndrome (BBS), a ciliopathy with overlapping clinical features. The MKKS protein functions as a chaperonin-like component in the BBSome complex, facilitating cargo transport to primary cilia, critical for cellular signaling pathways (e.g., Hedgehog signaling).

MKKS antibodies are primarily used in research to detect protein expression, localization, and interactions via techniques like Western blot, immunohistochemistry, or immunofluorescence. They help elucidate MKKS-related molecular mechanisms in ciliopathies and developmental disorders. Commercially available antibodies are often raised in rabbits or mice, validated for specificity using knockout controls. Dysregulation of MKKS is implicated in ciliary dysfunction, leading to organ developmental defects, obesity, and retinal degeneration. Studying MKKS with specific antibodies advances understanding of ciliopathy pathophysiology and potential therapeutic targets. These reagents are essential for diagnosing MKKS-associated disorders in research settings, though clinical diagnostic use remains limited.