Recombinant Human Dystrophin (DMD), Truncated

Uniprot Id

P11532

Target Species

Human

Target Name

DMD

Target Full Name

Dystrophin

Target Function

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.

Target Involvement

Duchenne muscular dystrophy (DMD); Becker muscular dystrophy (BMD); Cardiomyopathy, dilated, X-linked 3B (CMD3B)

Target Subcellular Location

Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cell junction, synapse, postsynaptic cell membrane.

Target Tissue Specificity

Expressed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma. Expressed in brain, muscle, kidney, lung and testis. Most tissues contain transcripts of multiple isoforms. Isoform 15: Only isoform to be detected in heart and liver

Target Synonyms

BMD; CMD3B; DMD; DMD_HUMAN; Duchenne muscular dystrophy protein; Dystrophin; Muscular dystrophy Duchenne and Becker types

Target Background

This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene.