KEGG   VARIANT: 203068v1
Entry
203068v1                      Variant                              
Name
TUBB mutation
Type
Loss of function
Gene
TUBB  tubulin beta class I [KO:K07375]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191130
Network
nt06515  Regulation of kinetochore-microtubule interactions
nt06541  Cytoskeleton in neurons
Disease
H01579  Congenital symmetric circumferential skin creases
H01881  Complex cortical dysplasia with other brain malformations
Reference
  Authors
Breuss M, Heng JI, Poirier K, Tian G, Jaglin XH, Qu Z, Braun A, Gstrein T, Ngo L, Haas M, Bahi-Buisson N, Moutard ML, Passemard S, Verloes A, Gressens P, Xie Y, Robson KJ, Rani DS, Thangaraj K, Clausen T, Chelly J, Cowan NJ, Keays DA
  Title
Mutations in the beta-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.
  Journal
Cell Rep 2:1554-62 (2012)
DOI:10.1016/j.celrep.2012.11.017
Reference
  Authors
Isrie M, Breuss M, Tian G, Hansen AH, Cristofoli F, Morandell J, Kupchinsky ZA, Sifrim A, Rodriguez-Rodriguez CM, Dapena EP, Doonanco K, Leonard N, Tinsa F, Moortgat S, Ulucan H, Koparir E, Karaca E, Katsanis N, Marton V, Vermeesch JR, Davis EE, Cowan NJ, Keays DA, Van Esch H
  Title
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.
  Journal
Am J Hum Genet 97:790-800 (2015)
DOI:10.1016/j.ajhg.2015.10.014
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