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TUBB4A (beta-4 tubulin) 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.
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Protein Aliases: class IVa beta-tubulin; dystonia 4, torsion (autosomal dominant); Tubulin 5 beta; tubulin beta; Tubulin beta-4 chain; Tubulin beta-4A chain; tubulin, beta 4; tubulin, beta 4 class IVa; tubulin, beta 4A class IVa; tubulin, beta, 5
Gene Aliases: AI325297; beta-5; DYT4; M(beta)4; Tubb; TUBB4; TUBB4A; TUBB5
UniProt ID: (Human) P04350, (Mouse) Q9D6F9
Entrez Gene ID: (Dog) 100855815, (Human) 10382, (Mouse) 22153, (Rat) 29213
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