TUBB3

TUBB3

A gene on chromosome 16q24.3 that encodes a beta tubulin, which is a major constituent of microtubules. TUBB3 plays a key role in proper axon guidance and maintenance.
Molecular pathology
Defects of TUBB3 cause congenital fibrosis of extraocular muscles type 3A, and cortical dysplasia complex with other brain malformations.