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Dystrophin (DMD)

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CMD3B; Muscular Dystrophy,Duchenne And Becker Types

Dystrophin (DMD)
CCC B503
HGNC 2928
MGI 94909
PubMed 3319190
RGD 2507
UniProt P11532
Wiki Dystrophin

Dystrophin is encoded by Duchenne muscular dystrophy (DMD) gene, which is the largest known gene in humans, and DMD is one of the most severe forms of inherited muscular dystrophies. Dystrophin is a kind of scaffold protein that anchors the extracellular matrix to the cytoskeleton via F-actin, and it is the 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. Dystrophin has many isforms, which can be found in brain, kidney, lung, liver, muscle, testis and heart. Most tissues contain transcripts of multiple isoforms. Isoform 5 is only detected in heart and liver.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPB503Hu01 Recombinant Dystrophin (DMD) Positive Control; Immunogen; SDS-PAGE; WB.
RPB503Hu02 Recombinant Dystrophin (DMD) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAB503Hu01 Polyclonal Antibody to Dystrophin (DMD) WB; IHC; ICC; IP.
MAB503Hu22 Monoclonal Antibody to Dystrophin (DMD) WB
PAB503Hu02 Polyclonal Antibody to Dystrophin (DMD) WB; IHC; ICC; IP.
MAB503Hu21 Monoclonal Antibody to Dystrophin (DMD) WB; IHC
MAB503Hu23 Monoclonal Antibody to Dystrophin (DMD) WB,IHC
MAB503Hu24 Monoclonal Antibody to Dystrophin (DMD) WB; IHC; ICC; IP.
MAB503Hu25 Monoclonal Antibody to Dystrophin (DMD) WB; IHC; ICC; IP.
Assay Kits SEB503Hu ELISA Kit for Dystrophin (DMD) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPB503Mu01 Recombinant Dystrophin (DMD) Positive Control; Immunogen; SDS-PAGE; WB.
RPB503Mu02 Recombinant Dystrophin (DMD) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAB503Mu01 Polyclonal Antibody to Dystrophin (DMD) WB; IHC; ICC; IP.
PAB503Mu02 Polyclonal Antibody to Dystrophin (DMD) WB; IHC; ICC; IP.
Assay Kits SEB503Mu ELISA Kit for Dystrophin (DMD) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Dystrophin (DMD) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Dystrophin (DMD) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Dystrophin (DMD) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Dystrophin (DMD) CLIA Kit Customized Service Offer
n/a ELISA Kit for Dystrophin (DMD) ELISA Kit Customized Service Offer
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  38. "Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA)."Eur. J. Hum. Genet. 7:765-770(1999) [PubMed] [Europe PMC] [Abstract]
  39. "Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy."J. Am. Coll. Cardiol. 40:1120-1124(2002) [PubMed] [Europe PMC] [Abstract]
  40. "Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy."Mol. Genet. Metab. 77:119-126(2002) [PubMed] [Europe PMC] [Abstract]
  41. "Rapid direct sequence analysis of the dystrophin gene."Am. J. Hum. Genet. 72:931-939(2003) [PubMed] [Europe PMC] [Abstract]
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  43. "Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing."BMC Med. Genet. 12:37-37(2011) [PubMed] [Europe PMC] [Abstract]
  44. "The ZZ domain of dystrophin in DMD: making sense of missense mutations."Hum. Mutat. 35:257-264(2014) [PubMed] [Europe PMC] [Abstract]
  45. "Missense mutation Lys18Asn in dystrophin that triggers X-linked dilated cardiomyopathy decreases protein stability, increases protein unfolding, and perturbs protein structure, but does not affect protein function."PLoS ONE 9:E110439-E110439(2014) [PubMed] [Europe PMC] [Abstract]