TUBA8 Antibody – Mouse Monoclonal

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]

TUBA8: 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. Defects in TUBA8 are the cause of polymicrogyria with optic nerve hypoplasia (PMGONH). It is a disease characterized by extensive polymicrogyria, optic nerve hypoplasia, severe developmental delay, hypotonia, seizures, a dysplastic or absent corpus callosum and colpocephaly. Polymicrogyria is a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Belongs to the tubulin family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Motility/polarity/chemotaxis; Cytoskeletal

Chromosomal Location of Human Ortholog: 22q11.1

Cellular Component: microtubule; cytoplasm

Molecular Function: GTPase activity; GTP binding; structural constituent of cytoskeleton

Biological Process: protein polymerization; metabolic process; microtubule-based process

Disease: Polymicrogyria With Optic Nerve Hypoplasia