| Symbol
| LAMP2
| contributors: mct/npt/pgu - updated : 07-07-2021
|
| HGNC name
| lysosomal-associated membrane protein 2
|
| HGNC id
| 6501
|
| 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
|
| |
|
| deletion of the Lamp2 gene in mice resulted in age-dependent autofluorescence abnormalities of the fundus, thickening of Bruch's membrane 7) |