A protein encoded by the Duchenne muscular dystrophy (DMD) gene. This molecule contains 3,685 amino acids, and it only represents 0.002% by weight of muscle. Dystrophin is located at the cytoplasmic faces of the plasma membranes of striated, smooth, and cardiac muscle cells. It binds cytoskeletal actin at its N-terminal end and a transmembrane glycoprotein at its C-terminal end. A number of shorter isoforms of dystrophin are localized in brain liver and other tissues. These proteins are translated from mRNAs transcribed from promoters that reside in the DMD gene at positions to the right of the one specific for muscle transcripts. Other isoforms are the result of alternative splicing (q.v.). See gene, isoforms, muscular dystrophy, utrophin.
Subjects: Genetics and Genomics — Medicine and Health.