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Dmd - dystrophin, muscular dystrophy Gene

Also Known as dys; mdx; pke; Dp71; Dp427; DXSmh7; DXSmh9

Species: Mus musculus

Gene Type: protein coding

Gene ID: 13405

Summary

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]

Dmd Products (6)

mRNA	Protein	Name
NM_001314034.1	NP_001300963.1	dystrophin isoform Dp71b
NM_001314035.1	NP_001300964.1	dystrophin isoform Dp71ab
NM_001314036.1	NP_001300965.1	dystrophin isoform Dp71
NM_001314037.1	NP_001300966.1	dystrophin isoform Dp71a
NM_001314038.1	NP_001300967.1	dystrophin isoform Dp40
NM_007868.6	NP_031894.1	dystrophin isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables nitric-oxide synthase binding	IPI IPI: Inferred from physical interaction	7545544	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	7890770	MGI

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within apoptotic process	IMP IMP: Inferred from mutant phenotype	20716577	MGI
acts upstream of or within bone development	IGI IGI: Inferred from genetic interaction	23798567	MGI
involved in cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	20080623	MGI
acts upstream of or within connective tissue development	IGI IGI: Inferred from genetic interaction	23798567	MGI
acts upstream of or within determination of adult lifespan	IGI IGI: Inferred from genetic interaction	23798567	MGI
acts upstream of or within establishment of blood-nerve barrier	IMP IMP: Inferred from mutant phenotype	12673830	MGI
acts upstream of or within establishment of glial blood-brain barrier	IMP IMP: Inferred from mutant phenotype	12673830	MGI
acts upstream of or within gene expression	IGI IGI: Inferred from genetic interaction	23798567	MGI
acts upstream of or within gene expression	IMP IMP: Inferred from mutant phenotype	20716577	MGI
acts upstream of or within inflammatory response	IMP IMP: Inferred from mutant phenotype	20716577	MGI
acts upstream of or within limb development	IGI IGI: Inferred from genetic interaction	23798567	MGI
acts upstream of or within multicellular organism growth	IGI IGI: Inferred from genetic interaction	23798567	MGI
acts upstream of or within multicellular organismal reproductive process	IGI IGI: Inferred from genetic interaction	23798567	MGI
acts upstream of or within muscle cell cellular homeostasis	IMP IMP: Inferred from mutant phenotype	6583703	MGI
acts upstream of or within muscle cell development	IGI IGI: Inferred from genetic interaction	8007658	MGI
acts upstream of or within muscle cell development	IMP IMP: Inferred from mutant phenotype	20716577	MGI
acts upstream of or within muscle organ development	IMP IMP: Inferred from mutant phenotype	14645204	MGI
acts upstream of or within myotube cell development	IMP IMP: Inferred from mutant phenotype	19535499	MGI
acts upstream of or within negative regulation of ERK1 and ERK2 cascade	IMP IMP: Inferred from mutant phenotype	14718391	MGI
involved in negative regulation of peptidyl-cysteine S-nitrosylation	IMP IMP: Inferred from mutant phenotype	19198614	MGI
involved in negative regulation of peptidyl-serine phosphorylation	IMP IMP: Inferred from mutant phenotype	23263329	MGI
acts upstream of or within nucleus localization	IMP IMP: Inferred from mutant phenotype	19535499	MGI
acts upstream of or within olfactory nerve structural organization	IMP IMP: Inferred from mutant phenotype	18586242	MGI
involved in positive regulation of cell-matrix adhesion	IMP IMP: Inferred from mutant phenotype	12370193	MGI
involved in positive regulation of sodium ion transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	21677768	MGI
involved in protein localization	IMP IMP: Inferred from mutant phenotype	7545544	MGI
involved in protein-containing complex assembly	IMP IMP: Inferred from mutant phenotype	19198614	MGI
acts upstream of or within reactive oxygen species biosynthetic process	IMP IMP: Inferred from mutant phenotype	20716577	MGI
acts upstream of or within regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	7919967	MGI
involved in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IMP IMP: Inferred from mutant phenotype	20080623	MGI
acts upstream of or within regulation of gene expression	IMP IMP: Inferred from mutant phenotype	22000014	MGI
involved in regulation of heart rate	IMP IMP: Inferred from mutant phenotype	20080623	MGI
acts upstream of or within regulation of membrane potential	IMP IMP: Inferred from mutant phenotype	11882673	MGI
involved in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IMP IMP: Inferred from mutant phenotype	20080623	MGI
involved in regulation of ryanodine-sensitive calcium-release channel activity	IMP IMP: Inferred from mutant phenotype	20080623	MGI
involved in regulation of skeletal muscle contraction	IMP IMP: Inferred from mutant phenotype	19198614	MGI
involved in regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion	IMP IMP: Inferred from mutant phenotype	19198614	MGI
involved in regulation of voltage-gated calcium channel activity	IMP IMP: Inferred from mutant phenotype	21677768	MGI
acts upstream of or within response to muscle stretch	IMP IMP: Inferred from mutant phenotype	11882673	MGI
acts upstream of or within response to xenobiotic stimulus	IMP IMP: Inferred from mutant phenotype	20716577	MGI
acts upstream of or within skeletal muscle tissue development	IGI IGI: Inferred from genetic interaction	12895031	MGI
acts upstream of or within skeletal muscle tissue development	IMP IMP: Inferred from mutant phenotype	16371353	MGI
acts upstream of or within skeletal muscle tissue regeneration	IGI IGI: Inferred from genetic interaction	32483152	MGI
acts upstream of or within skeletal muscle tissue regeneration	IMP IMP: Inferred from mutant phenotype	32483152	MGI
acts upstream of or within striated muscle cell development	IGI IGI: Inferred from genetic interaction	23798567	MGI
acts upstream of or within striated muscle contraction	IGI IGI: Inferred from genetic interaction	23798567	MGI
acts upstream of positive effect synaptic transmission, cholinergic	IMP IMP: Inferred from mutant phenotype	9334395	MGI
acts upstream of or within walking behavior	IGI IGI: Inferred from genetic interaction	23798567	MGI

Cellular Component GO Annotation	Evidence	References	Source
is active in GABA-ergic synapse	IDA IDA: Inferred from direct assay	35098363	MGI
is active in GABA-ergic synapse	IMP IMP: Inferred from mutant phenotype	35098363	MGI
located in Z disc	IDA IDA: Inferred from direct assay	7890770	MGI
located in cell junction	IDA IDA: Inferred from direct assay	25139234	MGI
located in cell-substrate junction	IDA IDA: Inferred from direct assay	7890770	MGI
part of dystrophin-associated glycoprotein complex	IDA IDA: Inferred from direct assay	7890770	MGI
located in membrane raft	IDA IDA: Inferred from direct assay	11259414	MGI
located in neuron projection terminus	IDA IDA: Inferred from direct assay	12115694	MGI
located in plasma membrane	IDA IDA: Inferred from direct assay	14627610	MGI
is active in postsynapse	IDA IDA: Inferred from direct assay	35098363	MGI
is active in postsynapse	IMP IMP: Inferred from mutant phenotype	35098363	MGI
is active in postsynaptic specialization	IDA IDA: Inferred from direct assay	9284362	MGI
located in sarcolemma	IDA IDA: Inferred from direct assay	7890770	MGI
located in synapse	IDA IDA: Inferred from direct assay	10995443	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
dystrophin	X-linked muscular dystrophy dystrophin Dp71d(delta71,73-74)

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-14842	Givinostat	Inhibitor	98.67%	Yes
HY-132611	Golodirsen		96.12%	Unkown
HY-132611A	Golodirsen sodium	Modulator	92.00%	Unkown
HY-132584A	Casimersen sodium		98.50%	Unkown
HY-132584	Casimersen		92.50%	Unkown

Clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Phase
HY-132586A	Viltolarsen sodium	Modulator	95.25%	Phase 4
HY-132586	Viltolarsen	Modulator	95.25%	Phase 4
HY-108753	Eteplirsen		98.50%	Phase 3
HY-134377	Bocidelpar	Modulator	98.08%	Phase 2
HY-17614	Ezutromid		98.87%	Phase 2
HY-127137	Adenylosuccinic acid		99.74%	Phase 1

Bioactive MoleculesInhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P99857	Domagrozumab	Inhibitor	96.34%	Phase 2

Pre-clinical Phase

Bioactive Molecules (20)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-152182	ML-SA5	Agonist	99.69%	Unkown
HY-147332	TCL053		99.97%	Unkown
HY-15898	Y-320		99.03%	Unkown
HY-101459	RTC13		98.01%	Unkown
HY-122631	TG693		99.95%	Unkown
HY-127137A	Adenylosuccinic acid tetraammonium		99.62%	Unkown
HY-139972	PROTAC(H-PGDS)-7		99.42%	Unkown
HY-114739	MA-0204	Modulator	99.31%	Unkown
HY-153369	BAY-747	Activator	98.01%	Unkown
HY-122588A	Negamycin hydrochloride		80.0%	Unkown
HY-150237	FITC-labeled Drisapersen sodium	Inhibitor	92.99%	Unkown
HY-RS03823	DMD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-147253	Brogidirsen		/	Unkown
HY-14931	Naproxcinod	Inhibitor	/	Unkown
HY-150077	Utrophin modulator 1		/	Unkown
HY-150078	OX01914		/	Unkown
HY-177659	Rimigorsen	Inhibitor	/	Unkown
HY-177659A	Rimigorsen sodium	Inhibitor	/	Unkown
HY-RS18019	Dmd Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24492	Dmd Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Bioactive MoleculesInhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P990051	Delpacibart		98.06%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Dmd	NCBI	NCBI:1756