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FLASH GENE
Symbol KIF3A contributors: shn/npt/pgu - updated : 07-09-2016
HGNC name kinesin family member 3A
HGNC id 6319
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
in polycystic kidney disease by inhibition of renal ciliogenesis
constitutional   deletion    
in ciliopathy with hydrocephalus, isolated craniosynostosis, hypertelorism, and clefting
tumoral     --over  
in the majority of human prostate cancer cell lines and primary tumor biopsies
constitutional   deletion    
selective deletion of KIF3A in osteoblasts disrupts primary cilia formation and/or function and impairs osteoblast-mediated bone formation through multiple pathways including intracellular calcium, hedgehog and Wnt signaling
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • mouse mutants lacking the KIF3A showed situs inversus and embryonic ciliary morphogenesis defects
  • mouse embryos lacking KIF3A die at 10 days postcoitum, exhibit randomized establishment of L-R asymmetry and display numerous structural abnormalities
  • complete loss of Kif3a led to large accumulations of opsin, arrestin and membranes within the photoreceptor inner segment and caused apoptotic photoreceptor cell death
  • Kif3a mutant zebrafish exhibited curved body axes and kidney cysts