機能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.
組織特異性Isoform LAMP-2A is highly expressed in placenta, lung and liver, less in kidney and pancreas, low in brain and skeletal muscle. Isoform LAMP-2B is highly expressed in skeletal muscle, less in brain, placenta, lung, kidney and pancreas, very low in liver.
関連疾患Defects in LAMP2 are the cause of Danon disease (DAND) [MIM:300257]; 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.
配列類似性Belongs to the LAMP family.
翻訳後修飾O- and N-glycosylated; some of the 16 N-linked glycans are polylactosaminoglycans.
細胞内局在Cell membrane. Endosome membrane. Lysosome membrane. This protein shuttles between lysosomes, endosomes, and the plasma membrane.