NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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
Research Articles on Tuba8
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Product Notes
The Tuba8 tuba8 (Catalog #AAA5303060) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. AAA Biotech's Tuba8 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB). Optimal conditions to be determined by the end user. Researchers should empirically determine the suitability of the Tuba8 tuba8 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "Tuba8, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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