Aliases for TUBB Gene
External Ids for TUBB Gene
Previous GeneCards Identifiers 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 Multiple Benign Circumferential Skin Creases On Limbs. Among its related pathways are Regulation of CFTR activity (norm and CF) and Regulation of PLK1 Activity at G2/M Transition. GO annotations related to this gene include GTP binding and structural molecule activity. An important paralog of this gene is TUBB2B.
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 (+).