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Cytoplasmic Adapters

Cytoplasmic adapter proteins play role in signal transduction from extracellular sources to specific intracellular sites. The adaptor proteins can contribute to the specificity of this signal transduction by recruiting enzymes in to the signaling networks or by physically moving enzymes closer to their target substrates. Specifically, adapter proteins are useful in mediating protein to protein interactions, rather than protein to lipid interactions. Although there are many sub-types of adapter proteins, most act by the same mechanisms, just on different pathways or targets. Many cytoplasmic adapter proteins have the ability to provide additional docking sites for certain signaling proteins.

Anti-CBL antibody binds against the target CBL. CBL has a role in signal transduction in hematopoietic cells. CBL is an adapter protein that can negatively regulate many different signaling pathways by binding to receptors on the surface of cells. CBL is localized in the cytoplasm of cells. Defects in CBL are the cause of Noonan syndrome-like disorder. Noonan syndrome is an autosomal dominant congenital disorder considered to be a type of dwarfism. Symptoms include delayed puberty, hearing loss, mental retardation, short stature, and physical anomalies including wide-set eyes, abnormally shaped ears, and sagging eyelids. Affected individuals may suffer from complications like excess fluid buildup in bodily tissues, infertility, heart problems, and social issues. There is no treatment or cure, but individuals who have a family history of Noonan syndrome can engage in genetic testing or counseling before having children who may inherit the disorder. Anti-NF2 / merlin antibody binds against the target NF2 / merlin. NF1 / merlin is localized in the cytoplasm of cells and expressed in many different tissues. NF2 probably regulates many different tumor suppression pathways. Defects in NF2 are the cause of neurofibromatosis 2 and schwannomatosis. Neurofibromatosis 2 is a genetic disorder characterized by tumor formation on the nerves of the brain and spine. Affected individuals experience balance problems, cataracts, headaches, hearing loss, and facial weakness. Tumors are treated with surgery or radiation. Schwannomatosis is a form of neurofibromatosis (NF) characterized by benign tumors that can compress sensory nerve axons leading to extreme and chronic pain. Surgery can be done to remove the tumors, however, most will recur.

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