Gene Summary: The protein encoded by this LAMP2 gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. LAMP2 may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this LAMP2 gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]General information above from NCBI
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Note=This protein shuttles between lysosomes, endosomes, and the plasma membrane.
Tissue specificity: 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.
Post-translational: O- and N-glycosylated; some of the 16 N-linked glycans are polylactosaminoglycans.
Involvement in disease: Danon disease (DAND) [MIM:300257]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Sequence similarity: Belongs to the LAMP family.
General information above from UniProt