Dystrophin

DMD
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1DXX, 1EG3, 1EG4, 3UUN
Identifiers
Aliases	DMD, BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85, dystrophin
External IDs	OMIM: 300377 MGI: 94909 HomoloGene: 20856 GeneCards: DMD
Gene location (Human)
Chr.	X chromosome (human)
End	33,339,609 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	84,249,747 bp
RNA expression pattern
	Top expressed in
	trigeminal ganglion; ; spinal ganglia; ; seminal vesicula; ; sural nerve; ; biceps brachii; ; vastus lateralis muscle; ; endothelial cell; ; saphenous vein; ; body of tongue; ; tibialis anterior muscle;
	Top expressed in
	ascending aorta; ; pineal gland; ; aortic valve; ; temporal muscle; ; sternocleidomastoid muscle; ; digastric muscle; ; triceps brachii muscle; ; median eminence; ; parotid gland; ; vastus lateralis muscle;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	nitric-oxide synthase binding; dystroglycan binding; vinculin binding; myosin binding; zinc ion binding; metal ion binding; protein binding; actin binding; structural constituent of muscle; structural constituent of cytoskeleton;
Cellular component	cytoplasm; cytosol; postsynaptic membrane; lateral plasma membrane; membrane; filopodium; cell-substrate junction; plasma membrane; synapse; dystrophin-associated glycoprotein complex; cell surface; cell junction; Z disc; actin cytoskeleton; membrane raft; sarcolemma; costamere; syntrophin complex; neuron projection terminus; cytoskeleton; nucleus; filopodium membrane; protein-containing complex;
Biological process	response to muscle stretch; regulation of ryanodine-sensitive calcium-release channel activity; cardiac muscle cell action potential; regulation of voltage-gated calcium channel activity; cardiac muscle contraction; muscle cell cellular homeostasis; negative regulation of peptidyl-cysteine S-nitrosylation; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; peptide biosynthetic process; muscle organ development; regulation of heart rate; positive regulation of neuron differentiation; negative regulation of peptidyl-serine phosphorylation; positive regulation of neuron projection development; muscle filament sliding; positive regulation of sodium ion transmembrane transporter activity; regulation of cellular response to growth factor stimulus; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; motile cilium assembly; regulation of skeletal muscle contraction; regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion; cytoskeleton organization;
	Sources:Amigo / QuickGO
Orthologs
	1756
	13405
	ENSG00000198947
	ENSMUSG00000045103
	P11532
	P11531
NM_000109; NM_004006; NM_004007; NM_004009; NM_004010;
	NM_004011; NM_004012; NM_004013; NM_004014; NM_004015; NM_004016; NM_004017; NM_004018; NM_004019; NM_004020; NM_004021; NM_004022; NM_004023
NM_007868; NM_001314034; NM_001314035; NM_001314036; NM_001314037;
	NM_001314038
NP_000100; NP_003997; NP_004000; NP_004001; NP_004002;
	NP_004003; NP_004004; NP_004005; NP_004006; NP_004007; NP_004008; NP_004009; NP_004010; NP_004011; NP_004012; NP_004013; NP_004014
NP_001300963; NP_001300964; NP_001300965; NP_001300966; NP_001300967;
	NP_031894
	Wikidata
View/Edit Human	View/Edit Mouse

Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex is variously known as the costamere or the dystrophin-associated protein complex (DAPC). Many muscle proteins, such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan, colocalize with dystrophin at the costamere. It has a molecular weight of 427 kDa

Dystrophin is coded for by the DMD gene – the largest known human gene, covering 2.4 megabases (0.08% of the human genome) at locus Xp21. The primary transcript in muscle measures about 2,100 kilobases and takes 16 hours to transcribe; the mature mRNA measures 14.0 kilobases. The 79-exon muscle transcript codes for a protein of 3685 amino acid residues.

Spontaneous or inherited mutations in the dystrophin gene can cause different forms of muscular dystrophy, a disease characterized by progressive muscular wasting. The most common of these disorders caused by genetic defects in dystrophin is Duchenne muscular dystrophy.

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