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 Optic Nerve Hypoplasia. Among its related pathways are Regulation of CFTR activity (norm and CF) and ERK Signaling. GO annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBA4B.
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 (+).