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FLASH GENE
Symbol BACE2 contributors: mct - updated : 07-12-2016
HGNC name beta-site APP-cleaving enzyme 2
HGNC id 934
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
in Down syndrome
constitutional     --over  
in patients with preclinical to late-stage AD, and also elevated in frontotemporal dementia
Susceptibility to Alzheimer disease (AD)
Variant & Polymorphism SNP haplotype (H5) was found to associate with AD, but haplotype (H7) showed a weaker association with protection against AD
Candidate gene
  • particulary strong therapeutic candidate for the treatment or prevention of AD
  • Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativealzheimer
    therapeutic interventions that potentiate BACE2 may prevent AD pathogenesis
    ANIMAL & CELL MODELS