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FLASH GENE
Symbol ZFYVE26 contributors: shn - updated : 03-01-2014
HGNC name zinc finger, FYVE domain containing 26
HGNC id 20761
ASSOCIATED DISORDERS
corresponding disease(s) SPG15
Susceptibility
  • atypical juvenile parkinsonism
  • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • SPG15 knock-down in zebrafish by morpholino antisense oligonucleotides lead to locomotor impairment and abnormal branching of spinal cord motor neurons at the neuromuscular junction
  • SPG15 knockdown causes the cation-independent mannose 6-phosphate receptor to become trapped in clusters of early endosomes as well as the tubulation of EEA1-positive endosomesof HeLa cellof HeLa cells
  • autophagy defects with autophagosome accumulation is observed also in neuronal cells upon spastizin silencing
  • Zfyve26 knockout mice develop late-onset spastic paraplegia with cerebellar ataxia, display axon degeneration and progressive loss of both cortical motoneurons and Purkinje cells in the cerebellum
  • an increase of Lamp1-positive membrane compartments with higher densities in Zfyve26 knockout mice