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

• Species: Human
• Source: Wheat Germ
• Tag: Non
• Protein Length: 635 amino acids
• 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.
• Molecular Weight: 95.960kDa inclusive of tags
• 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 Information

• 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