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:
“Science has fulfilled her function when she has ascertained and enunciated truth.”
—Thomas Henry Huxley (1825–95)
“As a medium of exchange,... worrying regulates intimacy, and it is often an appropriate response to ordinary demands that begin to feel excessive. But from a modernized Freudian view, worrying—as a reflex response to demand—never puts the self or the objects of its interest into question, and that is precisely its function in psychic life. It domesticates self-doubt.”
—Adam Phillips, British child psychoanalyst. “Worrying and Its Discontents,” in On Kissing, Tickling, and Being Bored, p. 58, Harvard University Press (1993)
“My function in life is not to be a politician in Parliament: it is to get something done.”
—Bernadette Devlin (b. 1947)