FITC标记的脊髓性肌萎缩症蛋白SMA/抗体上海沪震实业有限公司

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产品名称: FITC标记的脊髓性肌萎缩症蛋白SMA/抗体
英文名称: Anti-Gemin 1/FITC
抗体货号: HZ-11561R-FITC
产品规格: 100ul
级    别: 分析纯, , 分析纯,
产品产地: 中国/上海
品牌商标: HZbscience
价    格: 2980元
抗原: Rabbit
抗原来源: Rabbit
抗体来源: Rabbit
适用物种: 
FITCconjugate:FITC
应用范围: ICC=1:50-200 IF=1:50-200
更新时间: 2018/9/1 12:46:00
详细资料:  实验方法技术资料
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使用范围:仅限科研使用,不能应用于临床
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产品详细描述

 Rabbit Anti-Gemin 1/FITC Conjugated antibody

FITC标记的脊髓性肌萎缩症蛋白SMA/抗体

 

产品编号 bs-11561R-FITC
英文名称 Anti-Gemin 1/FITC
中文名称 FITC标记的脊髓性肌萎缩症蛋白SMA/抗体
别    名 Component of gems 1; Component of gems 2; Gemin 1; Gemin-1; SMA; SMA1; SMA3; SMN; SMN_HUMAN; SMN1; SMN2; SMNC; SMNT; Survival motor neuron protein; survival of motor neuron 1, telomeric; survival of motor neuron 2, centromeric;Component of gems 1; Gemin 1; Gemin-1; Gemin1; SMA 1; SMA 2; SMA 3; SMA 4; SMA; SMA1; SMA2; SMA3; SMA4; SMN 1; SMN; SMN-1; SMN_HUMAN; SMN1; SMN2; SMNT; Survival motor neuron protein; Survival of motor neuron 1 (telomeric); survival of motor neuron 1; Survival of motor neuron 1, telomeric; T-BCD541; BCD541; SMN_HUMAN.  
规格价格 100ul/2980元 购买        大包装/询价
说 明 书 100ul  
研究领域 细胞生物  神经生物学  表观遗传学  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, Mouse, Rat, Dog, Pig, Cow, Rabbit, 
产品应用 ICC=1:50-200 IF=1:50-200  
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 31kDa
性    状 Lyophilized or Liquid
浓    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human Gemin 1
亚    型 IgG
纯化方法 affinity purified by Protein A
储 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件 Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
产品介绍 background:
This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Two transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008]

Function:
The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus. It may also play a role in the metabolism of snoRNPs.

Subunit:
Component of an import snRNP complex composed of KPNB1, RNUT1, SMN1 and ZNF259. Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts with DDX20, FBL, NOLA1, RNUT1, SYNCRIP and with several spliceosomal snRNP core Sm proteins, including SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE and ILF3. Interacts with OSTF1, LSM10 and LSM11. 

Subcellular Location:
Cytoplasm. Nucleus, gem. Note=Localized in subnuclear structures next to coiled bodies, called Gemini of Cajal bodies (Gems).

Tissue Specificity:
Expressed in a wide variety of tissues. Expressed at high levels in brain, kidney and liver, moderate levels in skeletal and cardiac muscle, and low levels in fibroblasts and lymphocytes. Also seen at high levels in spinal cord. Present in osteoclasts and mononuclear cells (at protein level).

DISEASE:
Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300]. Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Autosomal recessive forms are classified according to the age of onset, the maximum muscular activity achieved, and survivorship. The severity of the disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amount of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is a severe form, with onset before 6 months of age. SMA1 patients never achieve the ability to sit.
Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550]. SMA2 is an autosomal recessive spinal muscular atrophy of intermediate severity, with onset between 6 and 18 months. Patients do not reach the motor milestone of standing, and survive into adulthood. Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]. SMA3 is an autosomal recessive spinal muscular atrophy with onset after 18 months. SMA3 patients develop ability to stand and walk and survive into adulthood. Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 4 (SMA4) [MIM:271150]. SMA4 is an autosomal recessive spinal muscular atrophy characterized by symmetric proximal muscle weakness with onset in adulthood and slow disease progression. SMA4 patients can stand and walk.

Similarity:
Belongs to the SMN family.
Contains 1 Tudor domain.

Database links:

Entrez Gene: 6606 Human

Entrez Gene: 6607 Human

Entrez Gene: 20595 Mouse

Entrez Gene: 64301 Rat

Omim: 600354 Human

SwissProt: Q16637 Human

SwissProt: P97801 Mouse

SwissProt: O35876 Rat

Unigene: 202179 Human

Unigene: 535788 Human

Unigene: 2025 Mouse

Unigene: 1119 Rat



Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications
   

该基因是5k13染色体上500 kb倒拷贝的一部分。该重复区域包含至少四个基因和重复元件,使得其易于重排和缺失。序列的重复性和复杂性也在确定该基因组区域的组织方面造成了困难。该基因的端粒和着丝粒拷贝几乎相同,编码相同的蛋白质。然而,该基因的突变,端粒拷贝,与脊髓性肌萎缩有关;着丝粒拷贝的突变不会导致疾病。着丝粒拷贝可能是由端粒拷贝突变引起的疾病的修饰剂。两个基因之间的关键序列差异是外显子7中的单核苷酸,这被认为是外显子剪接增强子。注意,端粒和着丝粒拷贝的九个外显子在历史上被指定为外显子1、2a、2b和3-8。认为基因转化事件可能涉及两个基因,导致每个基因拷贝数的变化。该基因编码的蛋白质定位于细胞质和细胞核。在细胞核内,蛋白质定位于被称为GEMS的亚核体,它位于含有高浓度小核糖核蛋白(SNRNPs)的卷曲体附近。该蛋白质与SIP1和GEMI4等蛋白质形成异构化的复合物,并且还与已知的参与SNRNPs的生物发生的几种蛋白质相互作用,如HNRNP U蛋白和小核仁RNA结合蛋白。已经描述了编码不同亚型的两个转录变体。

生物在线声明:以上所展示的信息由企业自行提供,内容的真实性、准确性和合法性由发布企业负责。生物在线对此不承担任何保证责任。

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