SMN2 is part of a 500kb 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.
Applications:Suitable for use in ELISA, Western Blot, Immunohistochemistry, Immunocytochemistry.
Other applications not tested.
Recommended Dilution:Western Blot: 1:50-400Immunocytochemistry: 1:50-500Immunohistochemistry (frozen): 1:50-500Immunohistochemistry (paraffin): 1:10-100ELISA: 1:100-1:5000Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：200ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a liquid in PBS, pH 7.4, 0.02% sodium azide, 50% glycerol.
Specificity：Recognizes human SMN2.
Isotype：IgG
Calc Applications Abbrev：E IC IHC WB
Calc Crossreactivity：Hu
Immunogen：Recombinant protein corresponding to Glu16-Pro251 of human SMN2, fused to His-Tag and T7-tag at N-terminal expressed in E. coli.
