产品说明
一般描述
MTM1 gene mutations cause X-linked myotubular myopathy. The corresponding protein, myotubularin, contains the consensus active site of tyrosine phosphatases (PTP) and is a tyrosine/serine phosphatase. The 3.7-kb MTMR1 mRNA is expressed ubiquitously. An additional 3.1-kb transcript was detected only in placenta. Analysis of the genomic region containing MTM1 and MTMR1 reveals that the 2 genes share a similar structure, suggesting that they are related and arose from an intrachromosomal gene duplication. The 2 main MTMR1 protein muscular isoforms, like myotubularin, dephosphorylate PI(3)P in vitro. There is a striking reduction in the level of the muscle-specific isoform and the appearance of an abnormal MTMR1 transcript in cultured differentiated muscle cells and in skeletal muscle from congenital myotonic dystrophy patients. MTMR1 may play a role in muscle formation, and may represent another target for abnormal mRNA splicing in myotonic dystrophy.
免疫原
MTMR1 (Q9Z2C4, 6-42)
This antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide selected from the N-terminal region of human MTMR1.
外形
Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide.
基本信息
| NACRES | NA.41 |
产品性质
| 生物来源 | rabbit |
| 质量水平 | 200 |
| 偶联物 | unconjugated |
| 抗体形式 | IgG fraction of antiserum |
| antibody product type | primary antibodies |
| 克隆 | polyclonal |
| 形式 | buffered aqueous solution |
| species reactivity | human |
| technique(s) | indirect ELISA: 1:1000 |
| NCBI登记号 | NP_058681 |
| UniProt登记号 | Q13613 |
| 运输 | dry ice |
| 储存温度 | −20℃ |
| Gene Information | human ... MTMR1(53332) |
安全信息
| 储存分类代码 | 12 - Non Combustible Liquids |
| WGK | nwg |
| 闪点(F) | Not applicable |
| 闪点(C) | Not applicable |
