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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 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
基因别名: AI325297; beta-5; DYT4; M(beta)4; Tubb; TUBB4; TUBB4A; TUBB5
UniProt ID: (Human) P04350, (Mouse) Q9D6F9
Entrez Gene ID: (Human) 10382, (Mouse) 22153, (Rat) 29213