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- DIMA BIOTECH/缔码生物
- 武汉
- PME36135
- 2025年07月14日
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- 保存条件：
-80°C
- 保质期：
请咨询
- 英文名：
Human Dystrophin (DMD) (NM_004021) Protein
- 库存：
1 week
- 供应商：
缔码生物（武汉）科技有限公司
- 规格：
20 ug
| 产品类别 | ECD Proteins |
|---|---|
| 靶点 | Dystrophin |
| Uniprot ID | P11532 |
| 背景 | 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] |
| 描述 | Recombinant protein of human dystrophin (DMD), transcript variant Dp140b |
| 分子量 | 143 kDa |
| 纯度 | > 80% as determined by SDS-PAGE and Coomassie blue staining |
| 别名 | BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85 |
| 标签 | C-Myc/DDK |
| 表达宿主 | HEK293T |
| 组分与重悬 | 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol |
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文献和实验Point Mutation Detection in the Dystrophin Gene
Patients with Duchenne and Becker muscular dystrophy (DMD/BMD) carry mutations in the dystrophin gene. To date, the dystrophin gene is the largest gene ever found in a living organism, measuring 2.4 Mb (1 –3 ). The major muscle transcript
Use of Animal Models to Understand Human Muscular Dystrophy
In the decade following the identification of mutations in the dystrophin genein Duchenne (1 ) and Becker (2 ) muscular dystrophies (DMD/BMD), defects in components of the dystrophin-glycoprotein complex (DGC), which links F-
Detection of NF1 Mutations Utilizing the Protein Truncation Test (PTT)
developed to screen for mutations in the dystrophin (DMD) gene causing Duchenne/Becker muscular dystrophies. The ability of the PTT to detect mutations at the protein level offers various advantages over other screening methods such as single-strand
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