TUBB2A gene

tubulin beta 2A class IIa

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a beta-tubulin. Defects in this gene are associated with complex cortical dysplasia with other brain malformations-5. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

From UniProt:

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.

From NCBI Gene:

  • Cortical dysplasia, complex, with other brain malformations 5

From UniProt:

Cortical dysplasia, complex, with other brain malformations 5 (CDCBM5): A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include seizures, global developmental delay, and various brain malformations such as a diffuse simplified gyral pattern with reduced volume of white matter, globular basal ganglia, thin and dysmorphic corpus callosum, mild brainstem hypoplasia with a flat pons, mild cerebellar vermis hypoplasia, and mildly enlarged posterior fossa. [MIM:615763]

Cytogenetic Location: 6p25, which is the short (p) arm of chromosome 6 at position 25

Molecular Location: base pairs 3,153,666 to 3,157,549 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p25, which is the short (p) arm of chromosome 6 at position 25
  • CDCBM5
  • TUBB
  • TUBB2