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The UTRN gene encodes the utrophin protein, which is closely related to dystrophin in structure and function, playing a crucial role in maintaining the integrity of muscle fiber membranes. Located on chromosome 6, utrophin is expressed widely in fetal tissues but is replaced by dystrophin in mature muscle fibers; however, it remains present in adult tissues such as the neuromuscular junction and blood vessels. Utrophin's primary role is to stabilize the cytoskeleton and membrane linkages, forming part of the protein complex responsible for structural support in muscle cells. This protein has garnered significant attention in the context of muscular dystrophies, particularly Duchenne Muscular Dystrophy (DMD), where utrophin upregulation is considered a potential therapeutic strategy to compensate for the lack of functional dystrophin. It helps to ameliorate muscle pathology by mimicking the stabilizing effects of dystrophin, thus preserving muscle function and reducing damage. Research on enhancing utrophin expression is ongoing, aiming to provide an effective treatment modality for DMD and other dystrophin-associated disorders.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: DRP-1; Dystrophin-related protein 1; Utrophin
基因别名: DMDL; DRP; DRP1; UTRN
UniProt ID: (Human) P46939
Entrez Gene ID: (Human) 7402