Products

Immunoprecipitation-Western Blot

Entrez GeneID

Gene Name

NF2

Gene Alias

ACN, BANF, SCH

Gene Description

neurofibromin 2 (merlin)

Omim ID

Gene Ontology

Gene Summary

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. [provided by RefSeq

Other Designations

merlin|moesin-ezrin-radixin like|moesin-ezrin-radizin-like protein|neurofibromin 2|neurofibromin 2 (bilateral acoustic neuroma)|schwannomerlin|schwannomin