tubulin beta 3 class III
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L TUBB3 gene provides instructions for making one version of a protein called beta-tubulin (β-tubulin). This protein is part of the tubulin family of proteins that form and organize cell structures called microtubules. Microtubules are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). They are composed of β-tubulin and a similar protein called alpha-tubulin (α-tubulin) that is produced from a different gene. Microtubules grow and shrink as tubulin proteins are added to and removed from the ends of fibers. This process allows cells to move and change shape.
Normal function
L TUBB3 gene provides instructions for making one version of a protein called beta-tubulin (β-tubulin). This protein is part of the tubulin family of proteins that form and organize cell structures called microtubules. Microtubules are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). They are composed of β-tubulin and a similar protein called alpha-tubulin (α-tubulin) that is produced from a different gene. Microtubules grow and shrink as tubulin proteins are added to and removed from the ends of fibers. This process allows cells to move and change shape.
β-tubulin produced from the TUBB3 gene is found in nerve cells (neurons) in the brain. This β-tubulin protein plays a role in the growth of specialized nerve cell extensions called axons and dendrites (collectively called neurites). Studies show this protein is particularly important for the regrowth of neurites after injury. Neurites relay messages to and from the brain to control muscle movement and detect sensations.
In addition to their role in cell movement, microtubules also function as a track along which other proteins, called motor proteins, transport materials within cells. β-tubulin produced from the TUBB3 gene appears to be important in the attachment of motor proteins to microtubules.
Conditions referring to this gene or chromosome
Altri nomi
class III beta-tubulin
Tubulin, Beta 3 Class III Gene
TUBULIN, BETA, CLASS III
TUBULIN, BETA-3
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Ulteriori letture e riferimenti
- tubulin beta 3 class III; MedlinePlus, National Library of Medicine.
- Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF Jr, Jabs EW, Hunter DG, Grant PE, Engle EC. A novel syndrome caused by the E410K amino acid substitution in the neuronal beta-tubulin isotype 3. Brain. 2013 Feb;136(Pt 2):522-35. doi: 10.1093/brain/aws345. Epub 2013 Jan 31.
- Grant PE, Im K, Ahtam B, Laurentys CT, Chan WM, Brainard M, Chew S, Drottar M, Robson CD, Drmic I, Engle EC. Altered White Matter Organization in the TUBB3 E410K Syndrome. Cereb Cortex. 2019 Jul 22;29(8):3561-3576. doi: 10.1093/cercor/bhy231.
- Latremoliere A, Cheng L, DeLisle M, Wu C, Chew S, Hutchinson EB, Sheridan A, Alexandre C, Latremoliere F, Sheu SH, Golidy S, Omura T, Huebner EA, Fan Y, Whitman MC, Nguyen E, Hermawan C, Pierpaoli C, Tischfield MA, Woolf CJ, Engle EC. Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration. Cell Rep. 2018 Aug 14;24(7):1865-1879.e9. doi: 10.1016/j.celrep.2018.07.029.
- Romaniello R, Arrigoni F, Fry AE, Bassi MT, Rees MI, Borgatti R, Pilz DT, Cushion TD. Tubulin genes and malformations of cortical development. Eur J Med Genet. 2018 Dec;61(12):744-754. doi: 10.1016/j.ejmg.2018.07.012. Epub 2018 Jul 17.
- Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcategui CE, de Uzcategui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Moller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell. 2010 Jan 8;140(1):74-87. doi: 10.1016/j.cell.2009.12.011.
- Whitman MC, Andrews C, Chan WM, Tischfield MA, Stasheff SF, Brancati F, Ortiz-Gonzalez X, Nuovo S, Garaci F, MacKinnon SE, Hunter DG, Grant PE, Engle EC. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. Am J Med Genet A. 2016 Feb;170A(2):297-305. doi: 10.1002/ajmg.a.37362. Epub 2015 Dec 6.
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