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FLASH GENE
Symbol ZBTB18 contributors: mct - updated : 14-01-2017
HGNC name zinc finger and BTB domain containing 18
HGNC id 13030
ASSOCIATED DISORDERS
corresponding disease(s) DEL1Q44
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   deletion    
neural-specific deletion of the BTB/POZ zinc-finger transcription factor-encoding gene ZBTB18 causes severe cerebellar hypoplasia and developmental failure of Purkinje neurons, Bergmann glia and granule neurons
tumoral       loss of function
in glioblastoma (GBM)
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • Rp58 knockout (KO) mice demonstrated enhanced astrogenesis accompanied with an excess of neural stem cells (NSCs)
  • mice with loss of Rp58 die at birth with neocortical defects