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质膜微囊蛋白3(CAV3)主要存在于各类肌肉组织(骨骼肌、心肌、平滑肌和膈肌)的质膜微囊内,促使肌细胞质膜微囊的形成.就CAV3的结构、主要功能、表达特性、相关肌肉疾病和发病机制进行综述.CAV3蛋白由151个氨基酸组成,被分为4个区域:N端区、脚手架区、跨膜区和C端区;CAV3在肌肉质膜微囊上参与行使各项生物功能,包括细胞信号传导、离子通道运输和能量代谢;CAV3可调控成肌细胞的生存力和分化,其正常生理水平的表达是肌肉发育和生理功能正常行使的关键因素;发生在CAV3上的突变可导致神经肌肉疾病和心肌疾病,主要包括LGMD、RMD、DM、H-CK和GHC,其发病机理涉及多方面遗传和环境因素.
Plasma membrane microencapsulated protein 3 (CAV3) mainly exists in the plasma membrane microcapsules of various muscle tissues (skeletal muscle, myocardium, smooth muscle and diaphragmatic muscle), which promote the formation of the plasma membrane microcapsules of the muscle cells.The structure, main functions, Expression characteristics, related muscle diseases and pathogenesis were reviewed.CAV3 protein is composed of 151 amino acids and is divided into four regions: N-terminal region, scaffolding region, transmembrane region and C-terminal region; CAV3 on the muscle membrane microcapsules Involved in the exercise of a variety of biological functions, including cell signaling, ion channel transport and energy metabolism; CAV3 can regulate myogenic cell viability and differentiation, the normal physiological level of expression is the key factor in the normal exercise of muscle development and physiological function; Mutations in CAV3 can lead to neuromuscular diseases and myocardial diseases, including LGMD, RMD, DM, H-CK and GHC, whose pathogenesis involves a wide range of genetic and environmental factors.