Utrophin
Title: Utrophin
Additional Names: Dystrophin-related protein; DRP; DMDL protein
Literature References: Autosomal homolog of dystrophin, q.v., the protein affected by mutation in Duchenne muscular dystrophy (DMD). Cytoplasmic protein; mol wt 395 kDa. Localized in the neuromuscular junctions of normal adult muscle. Widely distributed in a variety of other tissues including brain, stomach, kidney, spleen, liver, and lung. The name is derived from its ubiquitous pattern of expression. Like dystrophin, utrophin binds to actin and to a transmembrane glycoprotein complex, known as dystrophin-associated proteins (DAPs), to link the cytoskeleton with the extracellular matrix. Thought to partially compensate for the lack of dystrophin in DMD patients. Identification in mouse skeletal muscle: D. R. Love et al., Nature 339, 55 (1989). Primary structure: J. M. Tinsley et al., ibid. 360, 591 (1992). Association with DAPs: K. Matsumura et al., ibid, 588; J. M. Tinsley et al., Proc. Natl. Acad. Sci. USA 91, 8307 (1994). Analysis of actin-binding: S. J. Winder et al., J. Cell Sci. 108, 63 (1995). Expression in DMD patients: Y. Mizuno et al., J. Neurol. Sci. 119, 43 (1993). Review and comparison with dystrophin: J. M. Tinsley et al., Curr. Opin. Genet. Dev. 3, 484-490 (1993); D. R. Love et al., Neuromuscul. Disord. 3, 5-21 (1993); J. M. Tinsley, K. E. Davies, ibid. 537-539.

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