BBS12抗体;BBS12 Antibody—艾普蒂

The BBS12 antibody is a research tool used to study the Bardet-Biedl syndrome 12 (BBS12) protein, which is linked to Bardet-Biedl syndrome (BBS), a rare autosomal recessive disorder characterized by retinal degeneration, obesity, polydactyly, renal abnormalities, and cognitive impairment. BBS12 is one of over 25 genes associated with BBS, encoding a protein involved in the formation and function of primary cilia, essential organelles for cellular signaling and sensory perception. As part of the BBSome complex, BBS12 contributes to ciliary membrane biogenesis and intracellular trafficking. Mutations in BBS12 disrupt these processes, leading to ciliary dysfunction and multisystemic manifestations. Antibodies targeting BBS12 enable researchers to investigate its expression, localization, and interactions in tissues or cell models, aiding in understanding disease mechanisms. They are commonly used in techniques like Western blotting, immunofluorescence, and immunohistochemistry. Studies using BBS12 antibodies have highlighted its role in ciliary pathways and its potential overlap with other ciliopathies. These tools are critical for advancing therapeutic strategies, such as gene therapy or small-molecule interventions, to mitigate BBS-related pathologies.