Aliases for TUBB Gene
External Ids for TUBB Gene
This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014]
GeneCards Summary for TUBB Gene
TUBB (Tubulin, Beta Class I) is a Protein Coding gene. Diseases associated with TUBB include cortical dysplasia, complex, with other brain malformations 6 and distal hereditary motor neuropathy, type ii. Among its related pathways are ERK Signaling and GPCR Pathway. GO annotations related to this gene include GTP binding and structural molecule activity. An important paralog of this gene is TUBB3.
UniProtKB/Swiss-Prot for TUBB Gene
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
Microtubules are cylindrical tubes of 20-25 nm in diameter. They are composed of protofilaments which are in turn composed of alpha- and beta-tubulin polymers. Each microtubule is polarized, at one end alpha-subunits are exposed (-) and at the other beta-subunits are exposed (+). Microtubules act as a scaffold to determine cell shape, and provide a backbone for cell organelles and vesicles to move on, a process that requires motor proteins. The major microtubule motor proteins are kinesin, which generally moves towards the (+) end of the microtubule, and dynein, which generally moves towards the (-) end. Microtubules also form the spindle fibers for separating chromosomes during mitosis.