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FLASH GENE
Symbol EIF2AK3 contributors: mct/npt - updated : 13-04-2017
HGNC name eukaryotic translation initiation factor 2-alpha kinase 3
HGNC id 3255
ASSOCIATED DISORDERS
corresponding disease(s) WRS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
regulates beta-cell homeostasis in a cell-autonomous manner
Susceptibility to lower bone mineral density
Variant & Polymorphism SNP
  • common nonsynonymous sequence variants in EIF2AK3 have a modest effect on ER stress response and may contribute to the risk for low BMD through this mechanism
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativealzheimer
    EIF2AK3 pathway is a potential target for therapeutic applications in neurodegenerative diseases including AD
    ANIMAL & CELL MODELS
  • EIF2AK3 null mice (Yamaguchi, 2008)
  • deletion of Perk in either young adult or mature adult mice resulted in hyperglycemia associated with loss of islet and &
  • 946; cell architecture