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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.
AI325297; beta-5; class IVa beta-tubulin; dystonia 4, torsion (autosomal dominant); DYT4; hypothetical protein LOC540236; M(beta)4; QtrA-11757; Tubb; TUBB4; Tubb4a; TUBB5; Tubulin 5 beta; tubulin beta; tubulin beta 4A class IVa; tubulin beta-4 chain; Tubulin beta-4A chain; tubulin, beta 4; tubulin, beta 4 class IVa; tubulin, beta 4A class IVa; tubulin, beta, 5; unnamed protein product
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