Anti-NF2/Merlin Antibody Picoband® Fluoro594 Conjugated

Human merlin is coded by the gene NF2 in Chromosome 22. It is mapped to 22q12.2. This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts.

Widely expressed. Isoform 1 and isoform 3 are predominant. Isoform 4, isoform 5 and isoform 6 are expressed moderately. Isoform 8 is found at low frequency. Isoform 7, isoform 9 and isoform 10 are not expressed in adult tissues, with the exception of adult retina expressing isoform 10. Isoform 9 is faintly expressed in fetal brain, heart, lung, skeletal muscle and spleen. Fetal thymus expresses isoforms 1, 7, 9 and 10 at similar levels.

Calcium Signaling, Cancer, Cardiovascular, Endocrine System, Fatty Acid Oxidation, Fatty Acids, Lipid and Lipoprotein Metabolism, Lipids/Lipoproteins, Metabolic Signaling Pathways, Metabolism, Neurology Process, Neuroscience, Obesity, Pathways and Processes, Redox Metabolism, Signal Transduction, Signaling Pathway

Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex.

1. Ahronowitz, I., Xin, W., Kiely, R., Sims, K., MacCollin, M., Nunes, F. P. Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings. Hum. Mutat. 28: 1-12, 2007. 2. Arai, E., Ikeuchi, T., Karasawa, S., Tamura, A., Yamamoto, K., Kida, M., Ichimura, K., Yuasa, Y., Tonomura, A. Constitutional translocation t (4;22) (q12; q12.2) associated with neurofibromatosis type 2. Am. J. Med. Genet. 44: 163-167, 1992.