Summary:
Recombinant human SMN2 protein
Cat：P02603
| 【Derived From】： E.coli |
| 【Endotoxin】： Not measured |
| 【Amino Acid】： 1-294aa |
| 【Purity】： ≥85% by SDS-PAGE. |
| 【Name】： SMN2 |
| 【Full Name】： survival of motor neuron 2，centromeric |
| 【Uniprot】： Q16637 |
| 【Gene ID】： 6607 |
| 【Species Reactivity】： Human |
| 【Mol Mass】： 32kDa |
| 【Application】： Immunology research |
| 【Purification】： NI-NTA affinity purification |
| 【Bioactive】： N0 |
| 【Tag】： With a 6×His tag at the N/C-terminus. |
| 【Concentration】： 1mg/ml by SDS-PAGE. |
Store:
| 【Reconstitution】： 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.) |
| 【Storage】： Reconstituted protein solution can be stored at 4-7℃ for 1-2 weeks， stored at < -20℃ for 1 year. |
| 【Formulation】： Powder: Lyophilized from a 0.2 μm filtered solution of 2-8M Urea, 20mM Tris-HCl, 150mM NaCl, 1mM DTT, PH7.2-8.0. |
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
Verified picture
