TUBA1A

TUBA1A

A gene on chromosome 12q13.12 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 TUBA1A cause of lissencephaly type 3.
References in periodicals archive ?
A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.
b) POTEE protein in complex with TUBA1A is the heavier protein complex that coimmunoprecipitates with both RPeL27 and RPeL43, respectively, while the lighter complex was ACTB and ACTBL2 protein.
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation.