Function
Merlin is a membrane-cytoskeleton scaffolding protein, i.e. linking actin filaments to cell membrane or membrane glycoproteins. Human merlin is predominantly found in nervous tissue, but also in several other fetal tissues, and is mainly located in adherens junctions. Its tumor suppressor properties are probably associated with contact-mediated growth inhibition. Drosophila merlin is expressed in embryonic hindgut, salivary gland and imaginal discs and has apparently a slightly different role than in vertebrates.
The phosphorylation of serine 518 is known to alter the functional state of merlin. 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.
Mutations of the NF2 gene cause a human autosomal dominant disease called neurofibromatosis type 2. It is characterized by the development of tumors of the nervous system, most commonly of bilateral vestibular schwannomas (also called acoustic neuromas). NF2 belongs to the tumor suppressor group of genes.
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Famous quotes containing the word function:
“Think of the tools in a tool-box: there is a hammer, pliers, a saw, a screwdriver, a rule, a glue-pot, nails and screws.—The function of words are as diverse as the functions of these objects.”
—Ludwig Wittgenstein (1889–1951)
“Every boy was supposed to come into the world equipped with a father whose prime function was to be our father and show us how to be men. He can escape us, but we can never escape him. Present or absent, dead or alive, real or imagined, our father is the main man in our masculinity.”
—Frank Pittman (20th century)
“Uses are always much broader than functions, and usually far less contentious. The word function carries overtones of purpose and propriety, of concern with why something was developed rather than with how it has actually been found useful. The function of automobiles is to transport people and objects, but they are used for a variety of other purposes—as homes, offices, bedrooms, henhouses, jetties, breakwaters, even offensive weapons.”
—Frank Smith (b. 1928)