Gene BAG3
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Also known as
BIS, MFM6, CAIR1, BAG-3Overview
BAG3 (BAG Cochaperone 3) encodes a member of the BAG family of cochaperones that interact with heat shock protein 70 (Hsp70). BAG3 is highly expressed in cardiac and skeletal muscle, where it plays essential roles in maintaining cellular proteostasis, autophagy, and protection against stress-induced cell death.Mutations in BAG3 are associated with dilated cardiomyopathy and myofibrillar myopathy. The cardiac manifestations can be severe, presenting as early-onset heart failure with progressive ventricular dysfunction. BAG3 mutations account for a significant proportion of familial dilated cardiomyopathy cases and typically follow an autosomal dominant inheritance pattern.
Understanding your BAG3 genetic status is important for cardiovascular risk assessment, particularly in families with history of cardiomyopathy or heart failure. Early identification allows for cardiac monitoring and timely intervention with medications or devices to manage heart failure progression.