Dystrophin (DMD) Antibody – Rabbit Polyclonal

This gene encodes a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers in skeletal and cardiac muscles. The encoded protein, dystrophin, is part of the dystrophin-glycoprotein complex, which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. This protein is required for proper development and organization of myofibers as contractile units in striated muscles. Mutations in the human gene cause Duchenne and Becker Muscular Dystrophies and a form of heart disease called DMD-associated dilated cardiomyopathy. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2015]

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: Cytoskeletal; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: X C1|X 38.38 cM

Cellular Component: cell junction; cell surface; cell-matrix junction; costamere; cytoplasm; cytoskeleton; dystrophin-associated glycoprotein complex; filopodium; filopodium membrane; membrane; membrane raft; neuron projection terminus; nucleus; plasma membrane; postsynaptic membrane; protein complex; sarcolemma; synapse; Z disc

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

Biological Process: cardiac muscle cell action potential; cardiac muscle contraction; cellular protein complex assembly; cellular protein localization; establishment of blood-nerve barrier; muscle fiber development; muscle maintenance; muscle organ development; myotube cell development; negative regulation of ERK1 and ERK2 cascade; negative regulation of peptidyl-cysteine S-nitrosylation; negative regulation of peptidyl-serine phosphorylation; neurotransmitter receptor metabolic process; nucleus localization; olfactory nerve structural organization; peptide biosynthetic process; positive regulation of cell-matrix adhesion; positive regulation of neuron differentiation; positive regulation of neuron projection development; positive regulation of sodium ion transmembrane transporter activity; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; regulation of cellular response to growth factor stimulus; regulation of gene expression; regulation of heart rate; regulation of membrane potential; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; regulation of skeletal muscle contraction; regulation of skeletal muscle contraction via regulation of the release of sequestered calcium ion; regulation of transcription, DNA-templated; regulation of voltage-gated calcium channel activity; response to muscle stretch; skeletal muscle tissue development