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GM130 (Golgin subfamily A member 2) is a peripheral membrane protein localized to the cis-Golgi stack. It functions as a membrane skeleton component that maintains Golgi apparatus structure, facilitates vesicular trafficking, and links the Golgi organelle to the microtubule cytoskeleton, contributing to cell polarity and division. GM130 is ubiquitously expressed and essential for normal protein glycosylation and sorting. Mutations in the encoding gene, GOLGA2, can result in severe neuromuscular disorders including developmental delay, progressive microcephaly, congenital muscular dystrophy, and abnormal glycosylation[6][1][3][2]. There are no approved drugs or therapies directly targeting GM130, and its deficiency is associated with incompatible cellular phenotypes.
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