Aliases for TUBA8 Gene
External Ids for TUBA8 Gene
Previous HGNC Symbols for TUBA8 Gene
Previous GeneCards Identifiers for TUBA8 Gene
This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene are associated with polymicrogyria and optic nerve hypoplasia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
GeneCards Summary for TUBA8 Gene
TUBA8 (Tubulin, Alpha 8) is a Protein Coding gene. Diseases associated with TUBA8 include polymicrogyria with optic nerve hypoplasia and colpocephaly. Among its related pathways are ERK Signaling and GPCR Pathway. GO annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBA3C.
UniProtKB/Swiss-Prot for TUBA8 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.