BBS10抗体—艾普蒂

The BBS10 antibody is a crucial tool for studying Bardet-Biedl syndrome (BBS), a rare autosomal recessive ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal anomalies, and cognitive impairment. BBS10. a gene located on chromosome 12q21.2. encodes a protein component of the BBSome complex, which regulates ciliary function and intracellular trafficking. Mutations in BBS10 account for ~20% of BBS cases, making it one of the most frequently implicated genes in the disorder. The BBS10 antibody specifically targets the BBS10 protein, enabling researchers to investigate its expression, localization, and interactions within cellular pathways. It is widely used in techniques like Western blotting, immunofluorescence, and immunohistochemistry to analyze tissue-specific expression patterns, validate disease models (e.g., knockout mice or zebrafish), and explore molecular mechanisms underlying ciliary dysfunction. Commercially available BBS10 antibodies are typically polyclonal or monoclonal, raised against specific epitopes of human or murine BBS10. Validation includes testing in BBS10-deficient cells or tissues to confirm specificity. Research utilizing this antibody has advanced understanding of BBS pathogenesis, cilia-related signaling, and potential therapeutic targets for syndromic ciliopathies.