TUBB4 Antibody – Mouse Monoclonal

This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]

TUBB4: 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. Belongs to the tubulin family.

Protein type: Motility/polarity/chemotaxis; Cytoskeletal

Chromosomal Location of Human Ortholog: 19p13.3

Cellular Component: microtubule; internode region of axon; cell soma; nucleus; cytosol; myelin sheath; cilium

Molecular Function: GTPase activity; protein binding; GTP binding; structural constituent of cytoskeleton

Biological Process: protein polymerization; 'de novo' posttranslational protein folding; cellular protein metabolic process; protein folding; organelle organization and biogenesis; mitotic cell cycle; G2/M transition of mitotic cell cycle; transmembrane transport; microtubule-based process

Disease: Dystonia 4, Torsion, Autosomal Dominant