Distrofin je veliki citoskeletni protein sličan štapiću koji se nalazi na unutrašnjoj površini mišićnih vlakana. Distrofin nedostaje kod pacijenata sa Duchenneovom mišićnom distrofijom, a prisutan je u smanjenim količinama kod Beckerovih mišićnih distrofičara. Protein koji kodira ovaj gen je protein periferne membrane koji se nalazi povezan sa distrofinom i proteinima povezanim sa distrofinom. Ovaj gen je član porodice sintrofinskih gena, koja sadrži najmanje još dva strukturno povezana gena.[ 6]
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