The TMEM67 antibody is a crucial tool for studying the transmembrane protein 67 (TMEM67), also known as meckelin, which plays a pivotal role in ciliary function and cellular signaling. TMEM67 is a key component of the primary cilium, a sensory organelle involved in developmental pathways like Hedgehog and Wnt. Mutations in the TMEM67 gene are linked to ciliopathies, including Joubert syndrome, Meckel-Gruber syndrome, and COACH syndrome, characterized by renal, hepatic, and neurological abnormalities.
TMEM67 antibodies are designed to detect and analyze the expression, localization, and interactions of the TMEM67 protein in various tissues and cell types. These antibodies are widely used in techniques such as Western blotting, immunofluorescence, and immunohistochemistry to investigate ciliary structure-function relationships and disease mechanisms. Researchers employ TMEM67 antibodies to explore its role in ciliogenesis, cell polarity, and tissue development, as well as its interactions with other ciliary proteins like RPGRIP1L and CC2D2A.
The development of specific, high-affinity TMEM67 antibodies has advanced diagnostics and research into ciliopathies, enabling precise detection of protein variants and post-translational modifications. Commercial antibodies are typically validated in human, mouse, or rat models, with applications spanning basic research, biomarker discovery, and therapeutic target validation. Understanding TMEM67's molecular pathology through antibody-based studies continues to shed light on therapeutic strategies for cilia-related disorders.