Aliases for TUBA3E Gene
External Ids for TUBA3E Gene
Previous GeneCards Identifiers for TUBA3E Gene
Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. This gene encodes an alpha tubulin that highly conserved among species. A missense mutation in this gene has been potentially linked to microlissencephaly and global developmental delay. [provided by RefSeq, Jul 2016]
GeneCards Summary for TUBA3E Gene
TUBA3E (Tubulin Alpha 3e) is a Protein Coding gene. Diseases associated with TUBA3E include Lissencephaly and Primary Microcephaly. Among its related pathways are Apoptosis Modulation and Signaling and Pathways of neurodegeneration - multiple diseases. Gene Ontology (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 Summary for TUBA3E 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 (By similarity).
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 (+).