TUBB (tubulin beta class I) is a fundamental structural protein that forms the major constituent of microtubules, cylindrical structures composed of laterally associated alpha- and beta-tubulin heterodimers 1. TUBB functions by incorporating GTP-bound dimers at microtubule ends to stabilize a growing cap, with GDP-bound dimers accumulating below due to alpha-tubulin's GTPase activity, enabling dynamic microtubule polymerization and depolymerization 1. TUBB plays critical roles in diverse cellular processes including microtubule cytoskeleton organization, mitotic spindle formation, and ciliary function. Mutations in TUBB and related tubulin genes cause tubulinopathiesβa group of neurodevelopmental disorders characterized by complex brain malformations including lissencephaly, microcephaly, abnormal corticogenesis, and impaired axonal migration 1. Although fewer than ten MCD-associated mutations are known in TUBB compared to other tubulin genes, TUBB mutations consistently produce specific cortical dysgenesis patterns by altering microtubule dynamics and interactions with motor proteins 1. Beyond neurodevelopment, TUBB is significantly upregulated in ulcerative colitis macrophages and serves as a key regulator of tryptophan metabolism-related inflammation 2, while elevated TUBB expression correlates with hepatocellular carcinoma progression in NAFLD and represents a promising therapeutic target 3. These findings establish TUBB as both a fundamental cytoskeletal component and a disease-relevant biomarker across multiple pathological contexts.
No tissue expression data available for this gene.