KEGG   VARIANT: 23095v1
Entry
23095v1                      Variant                               
Name
KIF1B mutation
Type
Loss of function
Gene
KIF1B  kinesin family member 1B [KO:K10392]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605995
Network
nt06541  Cytoskeleton in neurons
Disease
H00264  Charcot-Marie-Tooth disease
Reference
  Authors
Zhao C, Takita J, Tanaka Y, Setou M, Nakagawa T, Takeda S, Yang HW, Terada S, Nakata T, Takei Y, Saito M, Tsuji S, Hayashi Y, Hirokawa N
  Title
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.
  Journal
Cell 105:587-97 (2001)
DOI:10.1016/s0092-8674(01)00363-4
Reference
  Authors
Schlisio S, Kenchappa RS, Vredeveld LC, George RE, Stewart R, Greulich H, Shahriari K, Nguyen NV, Pigny P, Dahia PL, Pomeroy SL, Maris JM, Look AT, Meyerson M, Peeper DS, Carter BD, Kaelin WG Jr
  Title
The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor.
  Journal
Genes Dev 22:884-93 (2008)
DOI:10.1101/gad.1648608
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