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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

GSD2B

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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)