| Gene Name |
SMN2 |
| Synonyms |
C BCD541，Component of gems 1，Gemin 1，SMN，SMN1，SMN1，SMN，SMN2，SMNC，SMNT，Survival motor neuron protein |
| English Name |
Recombinant human SMN2 protein |
| Full Name |
survival of motor neuron 2，centromeric |
| Chinese Name |
运动神经元生存蛋白 |
| Appearance |
Powder: Lyophilized from a 0.2 μm filtered solution of 2-8M Urea, 20mM Tris-HCl, 150mM NaCl, 1mM DTT, PH7.2-8.0. |
| Purity |
≥85% by SDS-PAGE. |
| Storage |
Reconstituted protein solution can be stored at 4-7℃ for 1-2 weeks， stored at < -20℃ for 1 year. |
| Transport Condition |
The product is shipped at -20℃ temperature. Upon receipt, store it immediately at the temperature listed below. |
| Concentration |
1mg/ml by SDS-PAGE. |
| Swiss Prot |
Q16637 |
| Gene ID |
6607 |
| Reactivity |
Human |
| Molecular Weight |
32kDa |
| Interval Range |
1-294aa |
| 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.While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease.This gene 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 full length 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.Four transcript variants encoding distinct isoforms have been described. |
| Application |
Immunology research |
| Source |
E.coli |
| Purification Method |
NI-NTA affinity purification |
| Solvent |
Reconstituted protein solution can be diluted with distilled water. Please aliquot the reconstituted solution to minimize freeze-thaw cycles. (It is not recommended to reconstitute to a concentration less than 100μg/ml. Dissolve the lyophilized protein in distilled water.) |
| Endotoxin |
Not measured |
| Biological Activity |
N0 |
| Lable Information |
With a 6×His tag at the N/C-terminus. |
| Unit |
Piece |
| Specification |
10ug 50ug 100ug 1mg |
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