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TUBB4 is 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.
Gene Name: | tubulin, beta 4A class IVa |
Family/Subfamily: | Tubulin |
Synonyms: | TUBB4A, Beta-5, Class IVa beta-tubulin, TUBB4, Tubulin 5 beta, Tubulin, beta 4 class IVa, Tubulin, beta 4A class IVa, Tubulin, beta, 5, Tubulin beta-4 chain, TUBB5, Tubulin beta-4A chain, Tubulin, beta 4 |
Target Sequences: | NM_006087 NP_006078.2 P04350 |
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