KEGG   VARIANT: 9371v1
Entry
9371v1                      Variant                                
Name
KIF3B mutation
Type
Loss of function
Gene
KIF3B  kinesin family member 3B [KO:K20196]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603754
Network
nt06541  Cytoskeleton in neurons
Disease
H00527  Retinitis pigmentosa
Reference
  Authors
Cogne B, Latypova X, Senaratne LDS, Martin L, Koboldt DC, Kellaris G, Fievet L, Le Meur G, Caldari D, Debray D, Nizon M, Frengen E, Bowne SJ, Cadena EL, Daiger SP, Bujakowska KM, Pierce EA, Gorin M, Katsanis N, Bezieau S, Petersen-Jones SM, Occelli LM, Lyons LA, Legeai-Mallet L, Sullivan LS, Davis EE, Isidor B
  Title
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
  Journal
Am J Hum Genet 106:893-904 (2020)
DOI:10.1016/j.ajhg.2020.04.005
Reference
  Authors
Adams JM, Sawe C, Rogers S, Reid J, Dasari R, Engelke MF
  Title
Characterization of the disease-causing mechanism of KIF3B mutations from ciliopathy patients.
  Journal
Front Mol Biosci 11:1327963 (2024)
DOI:10.3389/fmolb.2024.1327963
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