DMD Antibody – Rabbit Polyclonal

dystrophin: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin- associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. Defects in DMD are the cause of Duchenne muscular dystrophy (DMD). DMD is the most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment. Defects in DMD are the cause of Becker muscular dystrophy (BMD). BMD resembles DMD in hereditary and clinical features but is later in onset and more benign. Defects in DMD are a cause of cardiomyopathy dilated X- linked type 3B (CMD3B); also known as X-linked dilated cardiomyopathy (XLCM). Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. 6 isoforms of the human protein are produced by alternative splicing.

Protein type: Motility/polarity/chemotaxis; Cytoskeletal

Chromosomal Location of Human Ortholog: Xp21.2

Cellular Component: filopodium membrane; cell surface; protein complex; costamere; syntrophin complex; Z disc; cytosol; cell-matrix junction; lipid raft; actin cytoskeleton; dystrophin-associated glycoprotein complex; postsynaptic membrane; cytoskeleton; plasma membrane; synapse; nucleus; sarcolemma; lateral plasma membrane; filopodium

Molecular Function: protein binding; myosin binding; zinc ion binding; structural constituent of cytoskeleton; structural constituent of muscle; nitric-oxide synthase binding; actin binding; vinculin binding

Biological Process: regulation of skeletal muscle contraction via regulation of the release of sequestered calcium ion; muscle development; extracellular matrix organization and biogenesis; regulation of heart rate; negative regulation of peptidyl-serine phosphorylation; peptide biosynthetic process; muscle filament sliding; muscle maintenance; cellular protein complex assembly; regulation of skeletal muscle contraction; muscle fiber development; positive regulation of neuron differentiation; cardiac muscle contraction

Disease: Cardiomyopathy, Dilated, 3b; Muscular Dystrophy, Becker Type; Muscular Dystrophy, Duchenne Type