^ Ali Khajeh, J Ju, JH Atchiba, M (2014).Crystal structure of the merlin FERM domain". "Structural basis for neurofibromatosis type 2. ^ Shimizu T, Seto A, Maita N, Hamada K, Tsukita S, Tsukita S, Hakoshima T (2002)."The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms". ^ Haase VH, Trofatter JA, MacCollin M, Tarttelin E, Gusella JF, Ramesh V (1994)."Evolution and origin of merlin, the product of the Neurofibromatosis type 2 (NF2) tumor-suppressor gene". ^ Golovnina K, Blinov A, Akhmametyeva EM, Omelyanchuk LV, Chang LS (2005)."Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2". ^ Rouleau GA, Merel P, Lutchman M, Sanson M, Zucman J, Marineau C, Hoang-Xuan K, Demczuk S, Desmaze C, Plougastel B (1993).National Center for Biotechnology Information, U.S. Merlin (protein) has been shown to interact with: NF2 belongs to the tumor suppressor group of genes. It is characterized by the development of tumors of the nervous system, most commonly of bilateral vestibular schwannomas (also called acoustic neuromas). Mutations of the NF2 gene cause a human autosomal dominant disease called neurofibromatosis type 2. The Hippo pathway is a well conserved signalling pathway that coordinately regulates cell proliferation and apoptosis. Work in Drosophila identified Merlin as an upstream regulator of the Hippo tumor suppressor pathway, a function that is conserved in mammals. The signaling pathway of merlin is proposed to include several salient cell growth controlling molecules, including eIF3c, CD44, protein kinase A, and p21 activated kinases. The phosphorylation of serine 518 is known to alter the functional state of merlin. Drosophila merlin is expressed in embryonic hindgut, salivary glands, and imaginal discs, and has apparently a slightly different role than in vertebrates. Its tumor suppressor properties are probably associated with contact-mediated growth inhibition. Human merlin is predominantly found in nervous tissue, but also in several other fetal tissues, and is mainly located in adherens junctions. linking actin filaments to cell membrane or membrane glycoproteins. Merlin is a membrane-cytoskeleton scaffolding protein, i.e. Merlin can dimerize with itself and heterodimerize with other ERM family proteins.
The FERM domain is followed by an alpha-helical domain and a hydrophilic tail. All the known varieties have a conserved N-terminal part, which contains a FERM domain (a domain found in most cytoskeletal-membrane organizing proteins). The two most common of these are also found in the mouse and are called type 1 and type 2, differing by the absence or presence of exon 16 or 17, respectively).
MERLIN PROJECT WIKIPEDIA FULL
There are 10 known isoforms of human merlin molecule (the full molecule being 595 amino acids in length). Merlin is also known as schwannomin, a name derived from the most common type of tumor in the NF2 patient phenotype, the schwannoma. Merlin is a member of the ERM family of proteins including ezrin, moesin, and radixin, which are in the protein 4.1 superfamily of proteins. Other merlin-like genes are known from a wide range of animals, and the derivation of merlin is thought to be in early metazoa. Fruit fly merlin gene (symbol Mer) is located on chromosome 1 and shares 58% similarity to its human homologue. Mouse merlin gene is located on chromosome 11 and rat merlin gene on chromosome 17. Human merlin is coded by the gene NF2 in Chromosome 22. The name "merlin" is an acronym for " Moesin- Ezrin- Radixin-Like Protein". Sequence data reveal its similarity to the ERM protein family. In humans, it is a tumor suppressor protein involved in neurofibromatosis type II. Merlin (also called Neurofibromin 2 or schwannomin) is a cytoskeletal protein.
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