KEGG   VARIANT: 10300v1
Entry
10300v1                      Variant                               
Name
KATNB1 mutation
Type
Loss of function
Gene
KATNB1  katanin regulatory subunit B1 [KO:K18643]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602703
Network
nt06541  Cytoskeleton in neurons
Disease
H00268  Lissencephaly
Reference
  Authors
Mishra-Gorur K, Caglayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgumus GT, Nishimura S, Han W, Tu S, Baran B, Gumus H, Dilber C, Zaki MS, Hossni HA, Riviere JB, Kayserili H, Spencer EG, Rosti RO, Schroth J, Per H, Caglar C, Caglar C, Dolen D, Baranoski JF, Kumandas S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Sestan N, Louvi A, Bilguvar K, Yasuno K, Gleeson JG, Gunel M
  Title
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
  Journal
Neuron 84:1226-39 (2014)
DOI:10.1016/j.neuron.2014.12.014
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