August 2014—The dystrophin gene is the largest known human gene, comprising 2.2 Mb of the genome and 79 coding exons: Through the use of multiple tissue-specific promoters and alternative splicing of RNA, several isoforms of the protein dystrophin are encoded by the dystrophin (DMD) gene. The primary 427-kDA dystrophin isoform (Dp427) is found in the cytoplasm of skeletal and cardiac muscle cells, where it is involved in physically linking the cytoskeleton to protein structures outside the cell and, therefore, strengthens and protects muscle fibers during contraction and relaxation.
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