Aliases for TUBB3 Gene
External Ids for TUBB3 Gene
Previous HGNC Symbols for TUBB3 Gene
Previous GeneCards Identifiers for TUBB3 Gene
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]
GeneCards Summary for TUBB3 Gene
TUBB3 (Tubulin Beta 3 Class III) is a Protein Coding gene. Diseases associated with TUBB3 include Cortical Dysplasia, Complex, With Other Brain Malformations 1 and Fibrosis Of Extraocular Muscles, Congenital, 3A. Among its related pathways are Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding and Regulation of CFTR activity (norm and CF). GO annotations related to this gene include G-protein coupled receptor activity and GTPase activity. An important paralog of this gene is TUBB2B.
UniProtKB/Swiss-Prot for TUBB3 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. TUBB3 plays a critical role in proper axon guidance and mantainance.
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 (+).