TUBB2A

Tubulin beta-2A chain, encoded by the TUBB2A gene, is a member of the beta-tubulin family in humans. It forms part of microtubules, which are dynamic filaments of the cytoskeleton essential for cell shape, intracellular transport, and division. In neurons, microtubules support migration, axon guidance, and synaptic organization.

Biochemistry and structure: TUBB2A proteins polymerize with alpha-tubulin to create heterodimers that assemble into microtubules. Like other beta-tubulins, they bind guanosine triphosphate (GTP) and undergo dynamic assembly and disassembly that regulates microtubule stability. The protein is broadly conserved across vertebrates and shows highest expression in the nervous system during development.

Genetics: The TUBB2A gene belongs to the large tubulin gene family. It is expressed in the brain and other tissues, contributing to microtubule networks that support neurite outgrowth and neuronal polarity.

Clinical significance: Alterations in TUBB2A have been linked to tubulin-related neurodevelopmental disorders. Reported mutations can disrupt microtubule dynamics and neuronal migration, contributing to brain malformations and epilepsy in affected individuals. Ongoing research in patient-derived cells and animal models aims to clarify genotype-phenotype relationships and explore therapeutic strategies.