TUBB2A

TUBB2A

A gene on chromosome 6p25 that encodes a beta tubulin, which is a major constituent of microtubules.
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As a result, induced motor neurons expressed [beta]3-tubulins (Tubb2a and Tubb2b), Map2, synapsins (Syn1 and Syn2), synaptophysin (Syp), and synaptotagmins (Syt1, Syt4, Syt13, and Syt16) and had such electrophysiological characteristics of normal motor neurons as resting potential of -49.5 mV (SEM 5.6, N = 6), presence of active Na-K channels that were blocked by tetrodotoxin, and the ability to generate a characteristic neuronal action potential.
Each sample was profiled in duplicates for expression of TUBB2A, [8] TBP, GUSB, GAPDH, EMP2, VIM, VEGFA, PLAU, TWIST1, TP53, TOP2A, SCGB2A2, SATB1, RAD51, PTPRC, PTEN, PIK3CA, PGR, PARP1, MYC, MUC1, MTOR, ABCC1, MET, KRT19, KRAS, KIT,MKI67, IGF1R, IBSP, FLT1, ESR1, ERBB2, EPCAM, EGFR, CTSD, CDH1, CD44, CD24, AURAK, ALDH1A1, AKT2, ADAM17, ACTB (Actin fi), PPIA, and B2M.
Pilz et al., "De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy," The American Journal of Human Genetics, vol.