The BBS9 antibody targets the Bardet-Biedl Syndrome 9 (BBS9) protein, encoded by the *BBS9* gene, which is associated with Bardet-Biedl Syndrome (BBS), a rare genetic disorder characterized by obesity, retinal degeneration, renal abnormalities, and polydactyly. BBS9 is a critical component of the BBSome, a protein complex involved in ciliary function and intracellular trafficking. Cilia are essential for sensory perception and signaling; defects in BBSome proteins disrupt ciliary structure and signaling pathways, contributing to BBS pathology.
The BBS9 antibody is widely used in research to study ciliary biology, protein localization, and molecular mechanisms underlying BBS. It aids in detecting BBS9 expression in tissues like the retina, kidney, and brain via techniques such as Western blotting, immunofluorescence, and immunohistochemistry. Studies using this antibody have elucidated BBS9's role in ciliogenesis, leptin receptor trafficking, and Wnt signaling regulation.
Commercial BBS9 antibodies are typically raised in rabbits or mice, with validation in knockout models to ensure specificity. Researchers also employ it to explore BBS9 interactions with other BBSome proteins (e.g., BBS1. BBS4) and its involvement in non-syndromic ciliopathies. Understanding BBS9's function through antibody-based assays provides insights into therapeutic strategies for BBS and related disorders linked to ciliary dysfunction.