The BBS1 antibody is a research tool targeting the Bardet-Biedl syndrome 1 (BBS1) protein, encoded by the *BBS1* gene linked to Bardet-Biedl syndrome (BBS), a rare autosomal recessive disorder. BBS is characterized by multisystem abnormalities, including retinal degeneration, obesity, renal defects, and polydactyly. BBS1. a key component of the BBSome protein complex, plays a critical role in ciliary function and intracellular trafficking. It facilitates the assembly of the BBSome, which mediates cargo transport to primary cilia, essential for sensory perception and signaling pathways like Hedgehog.
Mutations in *BBS1* are the most common genetic cause of BBS, with a prevalent missense variant (M390R) accounting for ~30% of cases. The BBS1 antibody is widely used in biomedical research to study protein expression, localization, and interactions in cellular models (e.g., ciliated cells) or animal tissues. It aids in elucidating ciliopathy mechanisms, validating gene-editing outcomes, and assessing BBS1’s role in cilia-related pathologies beyond BBS, such as kidney disease or metabolic disorders.
Commercial BBS1 antibodies are typically developed in rabbits or mice, using immunogens derived from human or murine BBS1 epitopes. Validation often includes Western blotting, immunofluorescence, and knockout controls. However, variability in antibody specificity remains a challenge, requiring careful experimental optimization. Overall, BBS1 antibodies are vital for advancing cilia biology and understanding the molecular basis of syndromic ciliopathies.