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TUBB3 / Tubulin Beta 3 is a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6.
Gene Name: | tubulin, beta 3 class III |
Family/Subfamily: | Tubulin |
Synonyms: | TUBB3, CDCBM, Beta III Tubulin, Class III beta-tubulin, TUBB4, Tubulin, beta 3, Tubulin beta-III, Tubulin beta-3 chain, Tubulin beta-4 chain, Tubulin, beta 3 class III, CFEOM3A |
Target Sequences: | NM_006086 NP_006077.2 Q13509 |
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