TUBB6 Gene: Tubulin Beta 6 Class V – Function, Mutations & Disease

TUBB6 encodes a member of the beta-tubulin protein family, specifically class V beta-tubulin. Beta-tubulins are major components of microtubules, which are cytoskeletal structures essential for cell division, intracellular transport, and maintenance of cell shape. TUBB6 is expressed in various tissues, with notable levels in the brain and testis. Mutations in TUBB6 are associated with congenital fibrosis of the extraocular muscles type 3 (CFEOM3) and other neurodevelopmental disorders, reflecting its critical role in neuronal migration and axon guidance.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Microtubule cytoskeleton organization

• Cell cycle (mitotic)

• Axon guidance

TUBB6 encodes a 446-amino-acid beta-tubulin protein (class V) that heterodimerizes with alpha-tubulin to form microtubules. It is highly conserved and expressed predominantly in brain and testis. The protein contains a GTP-binding domain essential for polymerization. Pathogenic missense mutations typically exert dominant-negative effects, leading to microtubule dysfunction and neurodevelopmental phenotypes.