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FLASH GENE
Symbol LAMP2 contributors: mct/npt/pgu - updated : 07-07-2021
HGNC name lysosomal-associated membrane protein 2
HGNC id 6501
ASSOCIATED DISORDERS
corresponding disease(s) GSD2B
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
in rimmed vacuoles
constitutional     --low  
may contribute to the formation of basal laminar deposits (BLamDs) in age-related macular degeneration (AMD)
constitutional     --over  
can improve autophagic flux blockade probably by promoting the trafficking of cathepsins and consequently conferring cardiomyocyte resistance against lysosomal cell death (LCD) that is induced by ischemic injury
Susceptibility
  • to pauci-immune focal necrotizing glomerulonephritis
  • to accessory atrioventricular connections
  • Variant & Polymorphism other infection with fimbriated bacteria induces autoantibodies to LAMP2 through molecular mimicry and these antibodies bind microvascular endothelium and cause injury
    Candidate gene for MEAX
    Marker
  • High expression of LAMP2 predicts poor prognosis in patients with esophageal squamous cell carcinoma (ESCC)
  • Therapy target
    ANIMAL & CELL MODELS
  • deletion of the Lamp2 gene in mice resulted in age-dependent autofluorescence abnormalities of the fundus, thickening of Bruch's membrane 7)