beta Tubulin est un gène codé par le symbole TUBB. D'autres noms incluent: Tubulin beta chain; Tubulin beta-5 chain; TUBB; TUBB5. beta Tubulin a une masse de 49.67kDa, une longueur d'acide aminé de 444, et est impliqué dans les maladies: Cortical dysplasia, complex, with other brain malformations 6; Skin creases, congenital symmetric circumferential, 1.
Nous proposons 19 des anticorps contre beta Tubulin, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF, Cytométrie en Flux, IP et Dot avec des échantillons dérivés de Humain, Souris, Rat, Porcin, Lapin, Singe, Poulet, C. elegans, Canin, Drosophile, Hamster, Plantes et S. pombe.
Informations sur les Gènes et les Protéines
Résumé UniProt
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.
Résumé Entrez
This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13.
Spécificité tissulaire
Ubiquitously expressed with highest levels in spleen, thymus and immature brain.
Implication dans la maladie
Cortical dysplasia, complex, with other brain malformations 6: A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have microcephaly, ataxia, and severe delayed psychomotor development. Brain imaging shows variable malformations of cortical development, including white matter streaks, dysmorphic basal ganglia, corpus callosum abnormalities, brainstem and cerebellar hypoplasia, cortical dysplasia, polymicrogyria.
Skin creases, congenital symmetric circumferential, 1: An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features.
Similitudes de séquence
Belongs to the tubulin family.
Modification post-traductionnelle
Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).
Localisation cellulaire
Cytoplasm > Cytoskeleton.
