Antibody Name:	Anti-DMD Antibody
Antibody SKU:	CAB1411
Antibody Size:	20uL, 50uL, 100uL
Application:	WB IHC IF
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 346-635 of human DMD (NP_004007.1).

Application:	WB IHC IF
Recommended Dilution:	WB 1:200 - 1:2000 IHC 1:50 - 1:200 IF 1:50 - 1:200
Reactivity:	Human, Mouse, Rat
Positive Samples:	Mouse heart

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 346-635 of human DMD (NP_004007.1).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	NFWP VDSA PASS PQLS HDDT HSRI EHYA SRLA EMEN SNGS YLND SISP NESI DDEH LLIQ HYCQ SLNQ DSPL SQPR SPAQ ILIS LESE ERGE LERI LADL EEEN RNLQ AEYD RLKQ QHEH KGLS PLPS PPEM MPTS PQSP RDAE LIAE AKLL RQHK GRLE ARMQ ILED HNKQ LESQ LHRL RQLL EQPQ AEAK VNGT TVSS PSTS LQRS DSSQ PMLL RVVG SQTS DSMG EEDL LSPP QDTS TGLE EVME QLNN SFPS SRGH NVGS LFHM ADDL GRAM ESLV SVMT DEEG AE
Gene ID:	1756
Uniprot:	P11532
Cellular Location:	Cell junction, Cell membrane, Cytoplasm, Cytoplasmic side, Peripheral membrane protein, cytoskeleton, postsynaptic cell membrane, sarcolemma, synapse
Calculated MW:	57-72kDa/271kDa/425-426kDa
Observed MW:	427kDa

Synonyms:

DMD, BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85

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.

UniProt Protein Function:	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.
UniProt Protein Details:	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
NCBI Summary:	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. [provided by RefSeq, Dec 2016]
UniProt Code:	P11532
NCBI GenInfo Identifier:	313104240
NCBI Gene ID:	1756
NCBI Accession:	P11532.3
UniProt Secondary Accession:	P11532,P11531, P11530,
UniProt Related Accession:	P11532
Molecular Weight:	427kDa
NCBI Full Name:	Dystrophin
NCBI Synonym Full Names:	dystrophin
NCBI Official Symbol:	DMD
NCBI Official Synonym Symbols:	BMD; CMD3B; MRX85; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272
NCBI Protein Information:	dystrophin
UniProt Protein Name:	Dystrophin
Protein Family:	Dystrophin
UniProt Gene Name:	DMD
UniProt Entry Name:	DMD_HUMAN

	Western blot analysis of extracts of mouse heart, using DMD antibody (CAB1411) at 1:1000 dilution._Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution._Lysates/proteins: 25ug per lane._Blocking buffer: 3% nonfat dry milk in TBST._Detection: ECL Enhanced Kit (RM00021)._Exposure time: 90s.
	Immunohistochemistry of paraffin-embedded rat heart using DMD antibody (CAB1411) at dilution of 1:100 (40x lens).
	Immunohistochemistry of paraffin-embedded mouse heart using DMD antibody (CAB1411) at dilution of 1:100 (40x lens).
	Immunofluorescence analysis of HeLa cells using DMD antibody (CAB1411) at dilution of 1:100. Blue: DAPI for nuclear staining.