Implicated in tumor cell metastasis. May function in protection of the lysosomal membrane from autodigestion, maintenance of the acidic environment of the lysosome, adhesion when expressed on the cell surface (plasma membrane), and inter- and intracellular signal transduction. Protects cells from the toxic effects of methylating mutagens. Defects in LAMP2 are the cause of Danon disease (DAND); also known as glycogen storage disease type 2B (GSD2B). DAND is a lysosomal glycogen storage disease characterized by the clinical triad of cardiomyopathy, vacuolar myopathy and mental retardation. It is often associated with an accumulation of glycogen in muscle and lysosomes. Belongs to the LAMP family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral
Chromosomal Location of Human Ortholog: Xq24
Cellular Component: phagocytic vesicle membrane; membrane; lysosomal membrane; late endosome membrane; lysosome; late endosome; integral to membrane; plasma membrane; platelet dense granule membrane
Molecular Function: enzyme binding
Biological Process: platelet activation; platelet degranulation; protein stabilization; blood coagulation
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.