Recombinant Human Tubulin beta-2A chain (TUBB2A)

Function

Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin

Subcellular Location

Cytoplasm, cytoskeleton

Disease Association

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. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

High expression in brain, where it represents 30% of all beta-tubulins

Subunit

Interacts with ZNRF1 (By similarity). Part of a complex composed at least of ASH2L, EMSY, HCFC1, HSPA8, CCAR2, MATR3, MKI67, RBBP5, TUBB2A, WDR5 and ZNF335; this complex may have a histone H3-specific methyltransferase activity (By similarity). Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells

• Leffers H. et al. Cloning and vaccinia virus expression of a cDNA containing the complete coding sequence of human beta tubulin mRNA. (JUN-)
• Banerjee A. et al. Class II beta tubulin sequence from MCF7 breast cancer cells. (OCT-)
• Halleck A. et al. Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201). (JUN-)
• Mungall A.J. et al. The DNA sequence and analysis of human chromosome 6. — Nature (2003)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Lubec G. et al. PubMed: CI-DN574ORD5TV2B (DEC-)
• Fourest-Lieuvin A. et al. Microtubule regulation in mitosis: tubulin phosphorylation by the cyclin-dependent kinase Cdk1. — Mol. Biol. Cell (2006)
• Rogowski K. et al. Evolutionary divergence of enzymatic mechanisms for posttranslational polyglycylation. — Cell (2009)