MKS1抗体—艾普蒂

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     Gel: 8%SDS-PAGE, Lysate: 40 μg, Lane 1-2: Mouse liver tissue and Jurkat cell lysates, Primary antibody: P10131(MKS1 Antibody) at dilution 1/700, Secondary antibody: Goat anti rabbit IgG at 1/5000 dilution, Exposure time: 40 seconds    

  
  

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     The image is immunohistochemistry of paraffin-embedded Human brain tissue using P10131(MKS1 Antibody) at dilution 1/50. (Original magnification: ×200)    

  
  

The MKS1 antibody is a crucial tool in studying ciliopathies, particularly Meckel syndrome (MKS), a lethal autosomal recessive disorder. MKS1. a gene located on chromosome 17q22. encodes a component of the transition zone in primary cilia, essential for ciliary function and signaling. Mutations in MKS1 disrupt ciliogenesis, leading to multi-organ defects (e.g., renal cysts, polydactyly, CNS malformations).

The MKS1 antibody targets the MKS1 protein (∼70 kDa), enabling detection in tissues/cells via Western blot, immunofluorescence, or immunohistochemistry. It aids in elucidating MKS1's role in ciliary assembly, Hedgehog signaling, and interactions with other ciliary proteins (e.g., B9 proteins, TMEM67). Researchers use it to model MKS pathogenesis, validate gene-editing outcomes, and explore therapeutic targets. Commercially available from suppliers like Sigma-Aldrich and Abcam, it’s typically validated in knockout controls. Its applications extend to related ciliopathies (e.g., Bardet-Biedl syndrome, Joubert syndrome), emphasizing its importance in developmental biology and genetic disorder research. Proper validation remains critical due to potential cross-reactivity with homologous proteins.