Related Product Information for LAMP2 recombinant protein
Background: LAMP2 (Lysosomal Associated Membrane Protein 2) is a Protein Coding gene. LAMP2, also known as CD107b (Cluster of Differentiation 107b), 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. In humans, LAMP2, the causative gene of Danon disease, located on chromosome Xq24, encodes the lysosome-associated membrane protein-2 (LAMP-2). LAMP-2 deficiency, or Danon disease, is a rare X-linked lysosomal disease characterized by cardiomyopathy, vacuolar myopathy, and mental retardation. LAMP2 cardiomyopathy is an X-linked and highly progressive myocardial storage disorder associated with diminished survival, which clinically resembles sarcomeric hypertrophic cardiomyopathy.
References
Maron BJ, et al. (2010) Profound left ventricular remodeling associated with LAMP2 cardiomyopathy. Am J Cardiol. 106(8): 1194-6.Di Blasi C, et al. (2008) Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression. Neuromuscul Disord. 18(12): 962-6.Echaniz-Laguna A, et al. (2006) Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease. Muscle Nerve. 33(3): 393-7.
Uniprot Description
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: X A3.3|X 22.67 cM
Cellular Component: endosome; extracellular space; late endosome; late endosome membrane; lipid raft; lysosomal membrane; lysosome; membrane; phagocytic vesicle membrane; platelet dense granule membrane
Molecular Function: enzyme binding; protein domain specific binding
Biological Process: muscle maintenance; protein stabilization; regulation of protein stability
Product Notes
The LAMP2 lamp2 (Catalog #
AAA8122984) is a Recombinant Protein produced from HEK293 Cells and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: Leu26-Asn3 79.
It is sometimes possible for the material contained within the vial of
"LAMP2, Recombinant Protein" to become dispersed throughout the inside of
the vial, particularly around the seal of said vial, during shipment and storage. We always
suggest centrifuging these vials
to consolidate all of the liquid away from the lid and to the bottom of the vial prior to
opening. Please be advised that
certain products may require dry ice for shipping and that, if this is the case, an
additional dry ice fee may also be
required.
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