KEGG   VARIANT: 10381v1
Entry
10381v1                      Variant                               
Name
TUBB3 mutation
Gene
TUBB3  tubulin beta 3 class III [KO:K07375]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602661
Network
nt06515  Regulation of kinetochore-microtubule interactions
Disease
H00838  Congenital fibrosis of the extraocular muscles
H01881  Complex cortical dysplasia with other brain malformations
Reference
  Authors
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
  Title
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
  Journal
Cell 140:74-87 (2010)
DOI:10.1016/j.cell.2009.12.011
Reference
  Authors
Poirier K, Saillour Y, Bahi-Buisson N, Jaglin XH, Fallet-Bianco C, Nabbout R, Castelnau-Ptakhine L, Roubertie A, Attie-Bitach T, Desguerre I, Genevieve D, Barnerias C, Keren B, Lebrun N, Boddaert N, Encha-Razavi F, Chelly J
  Title
Mutations in the neuronal ss-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
  Journal
Hum Mol Genet 19:4462-73 (2010)
DOI:10.1093/hmg/ddq377
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