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FLASH GENE
Symbol EIF2S1 contributors: mct - updated : 28-12-2016
HGNC name eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa
HGNC id 3265
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --other  
elevated phosphorylation of EIF2S1 has been observed in the brains of Alzheimer disease patients
constitutional     --over  
UPR activation and/or increased EIF2S1 levels are seen in patients with AD, PD and prion disease
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
immunologyinfectious 
promoting EIF2S1 dephosphorylation rescues vital translation rates and is thereby neuroprotective in prion disease
ANIMAL & CELL MODELS
  • reducing Eif2s1 levels in prion-diseased mice significantly increases survival