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Tubulin beta-4B chain (TUBB4B) is a structural β-tubulin isotype and a key component of microtubules, which are cytoskeletal polymers involved in mitosis, maintenance of cell shape, intracellular transport, neuronal structure, and motility of cilia and flagella. TUBB4B forms heterodimers with alpha-tubulin to constitute microtubule filaments essential for these cellular functions. Pathogenic mutations in TUBB4B are linked to an autosomal dominant form of early-onset retinal degeneration with sensorineural hearing loss, and variants can impair the stability and function of the β-α tubulin heterodimer, reducing microtubule assembly and function. Although most therapeutic agents targeting tubulin are broad-spectrum and not isoform-specific, alterations and roles of TUBB4B in cellular proliferation make it a theoretical target for cancer and other diseases involving aberrant cell division or structural cell defects.
Inhibition of microtubule polymerization (e.g., colchicine, vinca alkaloids); Stabilization of microtubules (e.g., taxanes)
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