Recombinant Full Length Human DMD Protein

• Cat.No.: DMD-127HF
• Product Overview: Recombinant full length Human Dystrophin with N terminal proprietary tag, 95.96kDa inclusive of tag.

Specification

• Species: Human
• Source: In Vitro Cell Free System
• 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.
• Form: Liquid
• Molecular Mass: 95.960kDa inclusive of tags
• AA Sequence: MREQLKGHETQTTCWDHPKMTELYQSLADLNNVRFSAYRT AMKLRRLQKALCLDLLSLSAACDALDQHNLKQNDQPMDIL QIINCLTTIYDRLEQEHNNLVNVPLCVDMCLNWLLNVYDT GRTGRIRVLSFKTGIISLCKAHLEDKYRYLFKQVASSTGF CDQRRLGLLLHDSIQIPRQLGEVASFGGSNIEPSVRSCFQ FANNKPEIEAALFLDWMRLEPQSMVWLPVLHRVAAAETAK HQAKCNICKECPIIGFRYRSLKHFNYDICQSCFFSGRVAK GHKMHYPMVEYCTPTTSGEDVRDFAKVLKNKFRTKRYFAK HPRMGYLPVQTVLEGDNMETPVTLINFWPVDSAPASSPQL SHDDTHSRIEHYASRLAEMENSNGSYLNDSISPNESIDDE HLLIQHYCQSLNQDSPLSQPRSPAQILISLESEERGELER ILADLEEENRNLQAEYDRLKQQHEHKGLSPLPSPPEMMPT SPQSPRDAELIAEAKLLRQHKGRLEARMQILEDHNKQLES QLHRLRQLLEQPQAEAKVNGTTVSSPSTSLQRSDSSQPML LRVVGSQTSDSMGEEDLLSPPQDTSTGLEEVMEQLNNSFP SSRGHNVGSLFHMADDLGRAMESLVSVMTDEEGAE
• Purity: Proprietary Purification
• Storage: Shipped on dry ice. Upon delivery aliquot and store at -80 centigrade. Avoid freeze / thaw cycles.
• Storage Buffer: pH: 8.00. Constituents:0.79% Tris HCl, 0.31% Glutathione.

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