Danon disease is caused by mutations in the LAMP2 gene. (medlineplus.gov)
A study by Hashem et al using induced pluripotent stem cell-derived cardiomyocytes indicated that LAMP2 protein deficiency in Danon disease results in autophagic flux impairment, which in turn causes excessive oxidative stress and, subsequently, cardiomyocyte apoptosis. (medscape.com)
In a study that included two girls, aged 10 and 13 years, Hedberg Oldfors et al found evidence that early onset HCM in Danon disease, in contrast to the late-onset cases that can occur, may result from an uneven distribution of LAMP2 protein in cardiac muscle, with the protein lacking in some large portions of the muscle, while its expression is preserved in other large myocardial areas. (medscape.com)
See LAMP1 for more information on both LAMP1 and LAMP2. (wikipedia.org)
Both LAMP1 and LAMP2 have been found expressed on the surface of cancerous tumors, specifically in cells of highly metastatic cancer such as colon cancer and melanoma. (wikipedia.org)
LAMP2, along with LAMP1, interact with E-selectin and galectins to mediate the adhesion of some cancer cells to the ECM. (wikipedia.org)
In a study of glial tumors, the cell membranes of glial and endothelial cells were found to contain LAMP1 and LAMP2, while YKL-40 (a different glycoprotein) was found in the cytoplasm. (wikipedia.org)
Lysosomal membrane1
Lysosomal-associated membrane protein-2 (LAMP2) is a heavily glycosylated protein found inside the lysosomal membrane. (medscape.com)
Mutations3
Mutations in the LAMP2 gene lead to the production of very little or no LAMP-2 protein, which may impair the process of transporting cellular material into the lysosome. (medlineplus.gov)
[ 9 ] Genomic sequencing for the LAMP2 gene revealed mutations in 2 of 197 (1%) patients with HCM. (medscape.com)
In another study, 75 patients with possible HCM underwent genetic analysis, 6 had LAMP2 mutations. (medscape.com)
Gene3
Lysosome-associated membrane protein 2 (LAMP2), also known as CD107b (Cluster of Differentiation 107b) and Mac-3, is a human gene. (wikipedia.org)
The gene for LAMP2 has 9 coding exons and 2 alternate last exons, 9a and 9b. (wikipedia.org)
The LAMP2 gene provides instructions for making a protein called lysosomal associated membrane protein-2 (LAMP-2), which, as its name suggests, is found in the membrane of cellular structures called lysosomes . (medlineplus.gov)
This anti-LAMP2 antibody was produced from rabbits immunized with LAMP2 recombinant protein. (nsjbio.com)
Membrane protein3
Lysosome-associated membrane protein 2 (LAMP2), also known as CD107b (Cluster of Differentiation 107b) and Mac-3, is a human gene. (wikipedia.org)
The LAMP2 gene provides instructions for making a protein called lysosomal associated membrane protein-2 (LAMP-2), which, as its name suggests, is found in the membrane of cellular structures called lysosomes. (medlineplus.gov)
Among them, eight glycoproteins showed greater than 2-fold elevations in cancer BAL, including Neutrophil elastase (NE), Integrin alpha-M, Cullin-4B, Napsin A, lysosome-associated membrane protein 2 (LAMP2), Cathepsin D, BPI fold-containing family B member 2, and Neutrophil gelatinase-associated lipocalin. (nih.gov)
See LAMP1 for more information on both LAMP1 and LAMP2. (wikipedia.org)
Both LAMP1 and LAMP2 have been found expressed on the surface of cancerous tumors, specifically in cells of highly metastatic cancer such as colon cancer and melanoma. (wikipedia.org)
In a study of glial tumors, the cell membranes of glial and endothelial cells were found to contain LAMP1 and LAMP2, while YKL-40 (a different glycoprotein) was found in the cytoplasm. (wikipedia.org)
Transmission electron microscopy and co-localization of ubiquitin-positive puncta with lysosomal 12 markers LAMP1 and LAMP2 and with the multifunctional scaffolding protein, sequestosome-1 (SQSTM1/p62), confirmed autophagy. (cdc.gov)
In people with LAMP2 gene mutations, the lower left chamber of the heart, called the left ventricle, is usually the affected region. (medlineplus.gov)
People with hypertrophic cardiomyopathy caused by LAMP2 mutations often have a particular abnormality of the electrical signals that control the heartbeat called cardiac preexcitation. (medlineplus.gov)
Mutations in the LAMP2 gene lead to the production of very little or no LAMP-2 protein, which may impair the process of transporting cellular material into the lysosome. (nih.gov)
Autophagy1
LAMP2 regulates autophagy in the thymic epithelium and thymic stroma-dependent CD4 T cell development. (immunochemistry.com)
Disease1
METHODS: Detailed ocular examination in 10 patients with DD (3 males, 7 females) and a 45-year-old asymptomatic female somatic mosaic carrier of a LAMP2 disease-causing variant. (ucl.ac.uk)
Cells3
LAMP2, along with LAMP1, interact with E-selectin and galectins to mediate the adhesion of some cancer cells to the ECM. (wikipedia.org)
It has also been shown that the down-regulation of LAMP2 could both reduce the resistance of breast cancer cells to the paclitaxel and could inhibit cell proliferation in multiple myeloma cells. (wikipedia.org)
Cells that lack LAMP2 express normal levels of VAMP8, but fail to accumulate STX17 on autophagosomes, which is the most likely explanation for the lack of fusion between autophagosomes and lysosomes (PubMed:27628032). (nih.gov)
Human1
Find LAMP2 Antibodies for a variety of species such as anti-Human LAMP2, anti-Mouse LAMP2, anti-Rat LAMP2. (antibodies-online.com)
Identification2
CONCLUSIONS: Detailed ocular examination may represent a sensitive and quick screening tool for the identification of carriers of LAMP2 pathogenic variants, even in somatic mosaicism. (ucl.ac.uk)
Identification of a specific mutation in LAMP2 in a family may allow relatives to consider presymptomatic DNA testing after thorough genetic counseling. (medscape.com)