| Structural highlights
Disease
TBB2B_HUMAN Congenital fibrosis of extraocular muscles;Polymicrogyria due to TUBB2B mutation. The disease is caused by mutations affecting the gene represented in this entry. The disease may be caused by mutations affecting the gene represented in this entry. Defects in TUBB2B may be involved in cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ).[1]
Function
TBB2B_HUMAN Tubulin is the major constituent of microtubules (PubMed:23001566, PubMed:28013290, PubMed:26732629). It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). Plays a critical role in proper axon guidance in both central and peripheral axon tracts (PubMed:23001566). Implicated in neuronal migration (PubMed:19465910).[2] [3] [4] [5]
References
- ↑ Breuss MW, Nguyen T, Srivatsan A, Leca I, Tian G, Fritz T, Hansen AH, Musaev D, McEvoy-Venneri J, James KN, Rosti RO, Scott E, Tan U, Kolodner RD, Cowan NJ, Keays DA, Gleeson JG. Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability. Hum Mol Genet. 2017 Jan 15;26(2):258-269. doi: 10.1093/hmg/ddw383. PMID:28013290 doi:https://dx.doi.org/10.1093/hmg/ddw383
- ↑ Jaglin XH, Poirier K, Saillour Y, Buhler E, Tian G, Bahi-Buisson N, Fallet-Bianco C, Phan-Dinh-Tuy F, Kong XP, Bomont P, Castelnau-Ptakhine L, Odent S, Loget P, Kossorotoff M, Snoeck I, Plessis G, Parent P, Beldjord C, Cardoso C, Represa A, Flint J, Keays DA, Cowan NJ, Chelly J. Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet. 2009 Jun;41(6):746-52. doi: 10.1038/ng.380. Epub 2009 May 24. PMID:19465910 doi:https://dx.doi.org/10.1038/ng.380
- ↑ Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan WM, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, Gupta ML Jr, Engle EC. An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. Hum Mol Genet. 2012 Dec 15;21(26):5484-99. doi: 10.1093/hmg/dds393. Epub 2012 Sep, 21. PMID:23001566 doi:https://dx.doi.org/10.1093/hmg/dds393
- ↑ Laquerriere A, Gonzales M, Saillour Y, Cavallin M, Joye N, Quelin C, Bidat L, Dommergues M, Plessis G, Encha-Razavi F, Chelly J, Bahi-Buisson N, Poirier K. De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. Eur J Med Genet. 2016 Apr;59(4):249-56. doi: 10.1016/j.ejmg.2015.12.007. Epub, 2015 Dec 28. PMID:26732629 doi:https://dx.doi.org/10.1016/j.ejmg.2015.12.007
- ↑ Breuss MW, Nguyen T, Srivatsan A, Leca I, Tian G, Fritz T, Hansen AH, Musaev D, McEvoy-Venneri J, James KN, Rosti RO, Scott E, Tan U, Kolodner RD, Cowan NJ, Keays DA, Gleeson JG. Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability. Hum Mol Genet. 2017 Jan 15;26(2):258-269. doi: 10.1093/hmg/ddw383. PMID:28013290 doi:https://dx.doi.org/10.1093/hmg/ddw383
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