TUBA1A

disease:Defects in TUBA1A are the cause of lissencephaly type 3 (LIS3) [MIM:611603]. LIS is characterized by a smooth brain surface due to the absence (agyria) or reduction (pachygyria) of surface convolutions. It is often associated with psychomotor retardation and seizures. LIS3 features include agyria or pachygyria or laminar heterotopia, severe mental retardation, motor delay, variable presence of seizures, and abnormalities of corpus callosum, hippocampus, cerebellar vermis and brainstem.,function:Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain.,PTM:Undergoes a tyrosination/detyrosination cycle, the cyclic removal and re-addition of a C-terminal tyrosine residue by the enzymes tubulin tyrosine carboxypeptidase (TTCP) and tubulin tyrosine ligase (TTL), respectively.,similarity:Belongs to the tubulin family.,subunit:Dimer of alpha and beta chains.,tissue specificity:Expressed at a high level in fetal brain.,

protein complex assembly, microtubule-based process, microtubule-based movement, cellular macromolecular complex subunit organization, cellular macromolecular complex assembly, cellular protein complex assembly, macromolecular complex subunit organization, protein polymerization, macromolecular complex assembly, protein complex biogenesis,

Cytoplasm, cytoskeleton.

Expressed at a high level in fetal brain.