TUBA1A Antibody – Rabbit Polyclonal

Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to 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. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blotting studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, mental retardation, and early-onset epilepsy and caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]

TUBA1A: 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. Dimer of alpha and beta chains. Expressed at a high level in fetal brain. Belongs to the tubulin family.

Protein type: Cytoskeletal; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 12q13.12

Cellular Component: cytoplasmic microtubule; cytosol; microtubule; myelin sheath; nucleus; recycling endosome

Molecular Function: GTP binding; GTPase activity; protein binding; protein domain specific binding; structural constituent of cytoskeleton; structural molecule activity

Biological Process: 'de novo' posttranslational protein folding; cell division; cellular protein metabolic process; cytoskeleton-dependent intracellular transport; G2/M transition of mitotic cell cycle; microtubule-based process; mitotic cell cycle; organelle organization and biogenesis; protein folding

Disease: Lissencephaly 3