Survival Motor Neuron (SMN) is a ~38 kDa protein produced chiefly by the SMN1 gene, located on the telomeric portion of chromosome 5q. A nearly identical centromeric copy of the gene (SMN2) also produces a small amount of full-length SMN protein, but due to a translationally silent C-T transition that results in alternative splicing of the pre-mRNA, most of the resulting SMN is truncated, causing reduced protein stability and lower overall SMN levels. Deletion or mutation of the SMN1 gene results in a reduced level of full-length SMN protein and manifests as a range of neuromuscular phenotypes in humans as the disease spinal muscular atrophy (SMA). SMA is characterized by muscle weakness and atrophy, functional disability and is the most common lethal genetic disease of infants and toddlers. Approximately one in 35 adults is a carrier of the SMN1 mutation. The incidence of SMA is 1 in 6,000 to 1 in 10,000 live births. SMN protein is present in the cell cytoplasm, and also in the nucleus where it is concentrated in “gem” structures associated with Cajal bodies. SMN protein is a constituent of Gemin-containing complexes, and is thought to participate in many aspects of RNA metabolism. SMN complexes have been shown to mediate the assembly of uridine rich small nuclear ribonucleoproteins (snRNPs), which in turn act as critical components of spliceosomes.
Alternative Name: Survival motor neuron
Sensitivity: 50pg/ml (range 50-3200pg/ml)
Assay Time: 3 hours
Applications: ELISA, Colorimetric detection
Application Notes: For the quantitative determination of human and mouse SMN in cell lysate samples.
Wavelength: 450 nm
Species reactivity: Human, Mouse
Crossreactivity: No cross reactivity.
Use/Stability: Store all components at +4ºC, except Standard at -20ºC.
Shipping: Shipped on Blue Ice
Long Term Storage: -20°C
SMA以肌肉无力和萎缩、功能残疾为特征，是婴幼儿最常见的致命遗传病。大约每35名成年人中就有一人是SMN1突变的携带者。
ADI-900-209 SMN酶联免疫试剂盒是一种比色免疫测定试剂盒，可在3小时内获得结果。它是第1个可用于神经退行性疾病研究的现成SMN ELISA试剂盒。
艾美捷ADI-900-209 SMN酶联免疫试剂盒化学性质：
备选名称：存活运动神经元
灵敏度：50pg/ml（范围50-3200pg/ml）
化验时间：3小时
应用：ELISA，比色检测
应用说明：用于定量测定细胞裂解物样品中的人和小鼠SMN。
波长：450 nm
物种反应性：人、小鼠
交叉反应性：无交叉反应性。
使用/稳定性：将所有组件储存在+4ºC，标准组件除外，储存在-20ºC。
运输：蓝冰运输
长期储存：-20°C
内容：微量滴定板、缀合物、抗体、测定缓冲液13、洗涤缓冲液浓缩液、标准品、TMB底物、停止溶液2、提取试剂4
SMN酶联免疫试剂盒文献参考：
1.HDAC抑制剂SAHA和Dacinostat对SMA患者成纤维细胞SMN2表达影响的转录、甲基化和分子对接分析：J.Mohseni等人；，应用：人类细胞中测定的SMN蛋白，；
2.丙戊酸在成人中的临床试验中对血液样本进行的脊髓肌萎缩生物标志物测量：S.R.Renusch等人。；J、 神经肌肉。，应用：使用PBMC细胞裂解物的ELISA；
3.系统性、症状后反义寡核苷酸挽救II/III型脊髓性肌萎缩症新小鼠模型中的运动单位成熟延迟：L.P.Bogdanik等人。应用：ELISA评估小鼠组织匀浆中的SMN水平；
