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skos:definition |
MSH: A membrane protein homologous to the ERM (Ezrin-Radixin-Moesin) family of cytoskeleton-associated proteins which regulate physical properties of membranes. Alterations in neurofibromin 2 are the cause of NEUROFIBROMATOSIS 2.,NCI: Merlin protein (schwannomin, NF2 gene product) exhibits similarity to erythrocyte protein 4.1 and members of the ERM family (moesin, ezrin, and radixin), proteins thought to link cytoskeletal components with cell membrane proteins. Mutant merlin proteins alter cell adhesion, causing cells to detach from the substratum, a possible step in the pathogenesis of NF2. Merlin binds to the ERM-interacting phosphoprotein EBP-50. Merlin may maintain normal cytoskeletal organization. Schwannomin interacts with the HGF-regulated tyrosine kinase substrate HRS. Schwannomin and HRS co-localize at endosomes suggesting that schwannomin is involved in HRS-mediated cell signaling. (from OMIM 101000 and NCI)
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