Neurofibromin is a member of the GTPase-activating (GAP) class of proteins. These proteins enhance the GTPase activity of signaling G-Proteins like Ras. The NF1 gene is also classified as a tumor suppressor gene, and many studies have shown that mutations at the NF1 locus produce neurofibromas, rhabdomyosarcomas, leimyosarcomas, mental retardation and memory deficiency. Neurofibromin has also been associated with the intermediated filaments of the cytoskeleton. NF1 is expressed at its highest levels during periods of desmosome formation and mutations of NF1 produce variable cell sizes and morphologies.
chloride channel CLIC-like 1; Chloride channel CLIC-like protein 1; Mid-1-related chloride channel protein 1