This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X.
Pathway
Cell Cycle; Cell Cycle, Mitotic; Centrosome maturation; Chaperonin-mediated protein folding; Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding; Formation of tubulin folding intermediates by CCT/TriC; G2/M Transition; Gap junction; Loss of Nlp from mitotic centrosomes; Loss of proteins required for interphase microtubule organization??from the centrosome; Metabolism of proteins;
Citations
Publication ()
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