Creative BioMart to Present at
                        BIO-Europe Spring Creative BioMart to Present at AACR Annual Meeting|Apr. 5-10, 2024|Booth #2953

Recombinant Human DMD

Cat.No. : DMD-26936TH
Product Overview : Recombinant full length Human Dystrophin with N terminal proprietary tag, 95.96kDa inclusive of tag.
  • Specification
  • Gene Information
  • Related Products
Description : The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix.
Protein length : 635 amino acids
Molecular Weight : 95.960kDa inclusive of tags
Source : Wheat germ
Tissue specificity : Expressed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma. Expressed in brain, muscle, kidney, lung and testis. Isoform 5 is expressed in heart, brain, liver, testis and hepatoma cells. Most tissues contain transcripts of mul
Form : Liquid
Purity : Proprietary Purification
Storage buffer : pH: 8.00Constituents:0.3% Glutathione, 0.79% Tris HCl
Storage : Shipped on dry ice. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles.
Sequences of amino acids : MREQLKGHETQTTCWDHPKMTELYQSLADLNNVRFSAYRT AMKLRRLQKALCLDLLSLSAACDALDQHNLKQNDQPMDIL QIINCLTTIYDRLEQEHNNLVNVPLCVDMCLNWLLNVYDT GRTGRIRVLSFKTGIISLCKAHLEDKYRYLFKQVASSTGF CDQRRLGLLLHDSIQIPRQLGEVASFGGSNIEPSVRSCFQ FANNKPEIEAALFLDWMRLEPQSMVWLPVLHRVAAAETAK HQAKCNICKECPIIGFRYRSLKHFNYDICQSCFFSGRVAK GHKMHYPMVEYCTPTTSGEDVRDFAKVLKNKFRTKRYFAK HPRMGYLPVQTVLEGDNMETPVTLINFWPVDSAPASSPQL SHDDTHSRIEHYASRLAEMENSNGSYLNDSISPNESIDDE HLLIQHYCQSLNQDSPLSQPRSPAQILISLESEERGELER ILADLEEENRNLQAEYDRLKQQHEHKGLSPLPSPPEMMPT SPQSPRDAELIAEAKLLRQHKGRLEARMQILEDHNKQLES QLHRLRQLLEQPQAEAKVNGTTVSSPSTSLQRSDSSQPML LRVVGSQTSDSMGEEDLLSPPQDTSTGLEEVMEQLNNSFP SSRGHNVGSLFHMADDLGRAMESLVSVMTDEEGAE
Sequence Similarities : Contains 2 CH (calponin-homology) domains.Contains 22 spectrin repeats.Contains 1 WW domain.Contains 1 ZZ-type zinc finger.
Gene Name : DMD dystrophin [ Homo sapiens ]
Official Symbol : DMD
Synonyms : DMD; dystrophin; dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272; BMD; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; muscular dystrophy;
Gene ID : 1756
mRNA Refseq : NM_000109
Protein Refseq : NP_000100
MIM : 300377
Uniprot ID : P11532
Chromosome Location : Xp21.2
Pathway : Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem; Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem; Dilated cardiomyopathy, organism-specific biosystem; Dilated cardiomyopathy, conserved biosystem; Hypertrophic cardiomyopathy (HCM), organism-specific biosystem;
Function : PDZ domain binding; actin binding; actin binding; beta-dystroglycan binding; dystroglycan binding;

For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.

Inquiry

  • Q&As
  • Reviews

Q&As (0)

Ask a question

Customer Reviews (0)

Write a review

Ask a Question for All DMD Products

Required fields are marked with *

My Review for All DMD Products

Required fields are marked with *

0

Inquiry Basket

cartIcon
logo

FOLLOW US

Terms and Conditions        Privacy Policy

Copyright © 2024 Creative BioMart. All Rights Reserved.

Contact Us

  • /

Stay Updated on the Latest Bioscience Trends