NF2 encodes a protein, Merlin, that is similar to some members of the ERM family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. Merlin 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.
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Protein Aliases: Merlin; MGC123124; moesin-ezrin-radixin like; Moesin-ezrin-radixin-like protein; moesin-ezrin-radizin-like protein; neurofibromatosis 2; neurofibromin 2 (bilateral acoustic neuroma); neurofibromin 2 (merlin); Neurofibromin-2; OTTHUMP00000199607; Schwannomerlin; Schwannomin
Gene Aliases: ACN; BANF; merlin; Nf-2; NF2; SCH