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The Role of the Genetic Mutation on COPA Gene in COPA Syndrome

Abstract:
COPA syndrome is a rare genetic autoimmune disorder that can affect various body systems, especially the lungs, kidneys, and joints. Symptoms usually appear in childhood in the first or second decade of life. The signs and symptoms and severity of the disorder can vary greatly from one person to another. An autoimmune disorder is a disorder in which the body's adaptive immune system, which protects the body from infectious agents or other for eign substances, mistakenly attacks healthy tissue. COPA is caused by a mutation in the coatomer complex protein alpha subunit (COPA) gene. The COPA gene is located on the long arm of chromosome 1 at 1q23.2. Genes provide instructions for making proteins that play an important role in many body functions.