Abstract
The skeletal muscle LIM protein 1, FHL1 or SLIM1, is a member of the four-and-a-half LIM (FHL) domain protein family. LIM is an acronym of three transcription factors in which the cysteine-rich double zinc finger motif was identified. Mutations in the FHL1 gene may affect folding and stability of the LIM domain or the conformation of the adjacent zinc finger binding domain. The LIM motif mediates protein-protein interactions with transcription factors, cell signaling molecules, and cytoskeleton-associated proteins. FHL1 may contribute to muscle cytoarchitecture by interacting with myosin-binding protein-C and has been localized to the I-band and M-line of sarcomeres, suggesting that FHL1 is required for sarcomere assembly, stability of sarcomeres, and transcriptional regulation.
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Angelini, C. (2018). Scapuloperoneal Myopathy. In: Genetic Neuromuscular Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-56454-8_35
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DOI: https://doi.org/10.1007/978-3-319-56454-8_35
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