TUBB3 Human
Description
Product Specs
Product Science Overview
Tubulin, Beta 3 Class III (TUBB3) is a protein encoded by the TUBB3 gene in humans. It is a member of the beta-tubulin family, which, along with alpha-tubulins, forms the building blocks of microtubules. Microtubules are essential components of the cytoskeleton, providing structural support and playing critical roles in cell division, intracellular transport, and maintaining cell shape.
The TUBB3 gene is located on chromosome 16q24.3 . The protein encoded by this gene is primarily expressed in neurons and is involved in neurogenesis, axon guidance, and maintenance . TUBB3 binds two molecules of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain .
TUBB3 is predominantly expressed in neurons and testis cells . It is conditionally expressed in other tissues under certain conditions, such as exposure to a toxic microenvironment characterized by hypoxia and poor nutrient supply . The expression of TUBB3 can be used as a marker to identify neurons in brain tissue samples, distinguishing them from glial cells that do not express this protein .
TUBB3 plays a critical role in the proper guidance and maintenance of axons . It is a major constituent of microtubules, which are involved in various cellular processes, including intracellular transport, cell division, and maintaining cell shape . The protein’s ability to bind GTP is essential for microtubule dynamics, as GTP-tubulin dimers add to the growing ends of microtubules, forming a stabilizing cap .
Mutations in the TUBB3 gene are associated with several neurological disorders. One such disorder is congenital fibrosis of the extraocular muscles type 3 (CFEOM3), which affects eye movement . Additionally, TUBB3 has been implicated in cortical dysplasia, complex with other brain malformations 1 (CDCBM1) . These conditions highlight the importance of TUBB3 in normal neuronal development and function.
Recombinant human TUBB3 is produced using recombinant DNA technology, which involves inserting the TUBB3 gene into an expression system, such as bacteria or mammalian cells, to produce the protein in large quantities. This recombinant protein is used in various research applications, including studies on microtubule dynamics, neurogenesis, and axon guidance .
