Journal
TRAFFIC
Volume 13, Issue 8, Pages 1113-1123Publisher
WILEY-BLACKWELL
DOI: 10.1111/j.1600-0854.2012.01372.x
Keywords
ss-glucocerebrosidase; action myoclonus-renal failure syndrome; Gaucher disease; LIMP-2; lysosomal transport; lysosomes; progressive myoclonus epilepsy; SCARB2
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Funding
- Research Training Group [GRK1459]
- Deutsche Forschungsgemeinschaft (DFG)
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The lysosomal membrane protein type 2 is a novel identified lysosomal sorting receptor for beta-glucocerebrosidase (GC). Mutations in both genes underlie human pathologies causing action myoclonus-renal failure syndrome (AMRF) and Gaucher disease (GD), respectively. We now demonstrate that the lumenal acidification mediated by the vacuolar (H+)-ATPase triggers the dissociation of LIMP-2 and GC in late endosomal/lysosomal compartments. Moreover, we identified a single histidine residue in LIMP-2 that is necessary for LIMP-2 and GC binding. This residue is in close proximity to a proposed coiled-coil domain, which determines the binding to GC and may function as a critical pH sensor.
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