TUBA8

TUBA8

A gene on chromosome 22q11.1 that encodes an alpha tubulin, which combines with a beta tubulin to form microtubules, acting as a scaffold to determine cell shape and providing a matrix for cell organelle and vesicle movement via motor proteins.

Molecular pathology
Defects of TUBA8 cause polymicrogyria with optic nerve hypoplasia.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
There was also one case of polymicrogyria with optic nerve hypoplasia (TUBA8 gene mutation, p.Q235R).
Sirey et al., "Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia," American Journal of Human Genetics, vol.