CD107b Antibody – Rabbit Polyclonal

The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It 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 gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]

LAMP2: 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.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: Xq24

Cellular Component: phagocytic vesicle membrane; membrane; lysosomal membrane; lysosome; late endosome membrane; late endosome; integral to membrane; plasma membrane; platelet dense granule membrane

Molecular Function: protein domain specific binding; enzyme binding

Biological Process: platelet activation; platelet degranulation; protein stabilization; blood coagulation

Disease: Danon Disease