2024年12月25日 · TUBB2A (Tubulin Beta 2A Class IIa) is a Protein Coding gene. Diseases associated with TUBB2A include Cortical Dysplasia, Complex, With Other Brain Malformations 5 and Tubulinopathy. Among its related pathways are Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding and Golgi-to-ER retrograde transport.

2016年3月24日 · Tubulinopathies (or tubulin-related cortical dysgenesis) comprise a wide and overlapping range of brain malformations as well as other clinical features caused by pathogenic variants in genes encoding different isotypes of tubulin [Romero et al 2018].

TUBB2A is a beta-tubulin gene that is active in the brain during both its development and after birth. TUBB2A variants were first reported in children with subtle or undetectable brain malformations but suffering with infant-onset epileptic seizures (Cushion et al., 2014).

TUBB2A- related tubulinopathy (p.Asn247Lys) was first described in a patient with a phenotype of infantile spasms, global developmental delay, and brain malformations including a simplified gyral pattern with abnormalities of the corpus callosum, basal ganglia, thalami, brainstem, and cerebellum [Cushion et al., 2014].

The imaging phenotype associated with pathogenic variants in <i>TUBB2A</i> is highly variable, ranging from a normal cortex to extensive dysgyria with associated brain malformations.

Tubulin beta-2A chain is a protein that in humans is encoded by the TUBB2A gene. [5][6]

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.

Circular RNA circ_C16orf62 Suppresses Cell Growth in Gastric Cancer by miR-421/Tubulin beta-2A Chain (TUBB2A) Axis. De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay. The results suggest that betaII-tubulin may facilitate cancer growth and metastasis and, to accomplish this, may not need to be in microtubule form.

2024年12月9日 · Study shows that loss of Tubb2a or Tubb2b does not impair survival but does lead to relatively mild cortical malformation phenotypes. In contrast, loss of Tuba1a is perinatal lethal and leads to significant forebrain dysmorphology.

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. The status, quality, and expansion of the NIH full-length cDNA project: …