Tubulin (TUBB3) Human Recombinant Protein

This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]

TUBB3: 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. TUBB3 plays a critical role in proper axon guidance and mantainance. Dimer of alpha and beta chains. Expression is primarily restricted to central and peripheral nervous system. Greatly increased expression in most cancerous tissues. Belongs to the tubulin family.

Protein type: Motility/polarity/chemotaxis; Cytoskeletal

Chromosomal Location of Human Ortholog: 16q24.3

Cellular Component: microtubule; cell soma; axon; cytoplasm; dendrite; nucleus

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

Biological Process: protein polymerization; mitosis; 'de novo' posttranslational protein folding; axon guidance; cellular protein metabolic process; protein folding; transmembrane transport; microtubule-based process

Disease: Fibrosis Of Extraocular Muscles, Congenital, 3a, With Or Without Extraocular Involvement; Cortical Dysplasia, Complex, With Other Brain Malformations 1