Dmd - dystrophin

Enables several functions, including PDZ domain binding activity; integrin binding activity; and lamin binding activity. Involved in several processes, including nervous system development; regulation of neuron differentiation; and response to denervation involved in regulation of muscle adaptation. Located in several cellular components, including mitochondrial membrane; neurofilament; and secretory vesicle. Part of dystrophin-associated glycoprotein complex. Used to study Duchenne muscular dystrophy; brain edema; and dilated cardiomyopathy. Biomarker of muscular atrophy; retinal degeneration; and status epilepticus. Human ortholog(s) of this gene implicated in cognitive disorder; dilated cardiomyopathy (multiple); intellectual disability; and muscular dystrophy (multiple). Orthologous to human DMD (dystrophin). [provided by Alliance of Genome Resources, Apr 2022]