Mouse anti-Human/Mouse/Rat TUBA1A Monoclonal Antibody

Function

Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin

Subcellular Location

Cytoplasm, cytoskeleton; Cytoplasm, cytoskeleton, flagellum axoneme

Disease Association

Lissencephaly 3 (LIS3) : A classic type lissencephaly associated with psychomotor retardation and seizures. Features include agyria or pachygyria or laminar heterotopia, severe intellectual disability, motor delay, variable presence of seizures, and abnormalities of corpus callosum, hippocampus, cerebellar vermis and brainstem. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Expressed at a high level in fetal brain

Subunit

Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells. Component of sperm flagellar doublet microtubules (By similarity)

• Hall J.L. et al. Structural features and restricted expression of a human alpha-tubulin gene. — Nucleic Acids Res. (1985)
• Crabtree D.V. et al. Tubulins in the primate retina: evidence that xanthophylls may be endogenous ligands for the paclitaxel-binding site. — Bioorg. Med. Chem. (2001)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Scherer S.E. et al. The finished DNA sequence of human chromosome 12. — Nature (2006)
• Mural R.J. et al. PubMed: CI-5GBDQ6B103N1E (JUL-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Lubec G. et al. PubMed: CI-DN574ORD5TV2B (DEC-)
• Cowan N.J. et al. Expression of human alpha-tubulin genes: interspecies conservation of 3' untranslated regions. — Mol. Cell. Biol. (1983)