The SMN2 Polyclonal Antibody (CAB12508) is developed for research involving Survival Motor Neuron 2 (SMN2), a gene associated with spinal muscular atrophy (SMA), a genetic disorder that affects the control of muscle movement. The antibody, produced in rabbits, demonstrates high reactivity with human samples and is validated for use in Western blotting applications. By targeting the SMN2 protein, this antibody facilitates the detection and analysis of SMN2 expression in a variety of cell types, making it an excellent tool for investigations in neurology and genetic diseases.SMN2 is a crucial gene involved in the production of survival motor neuron (SMN) protein, which plays a vital role in motor neuron function and survival.
Mutations or deletions in the SMN2 gene lead to a deficiency in SMN protein levels, resulting in the symptoms of SMA. Research on SMN2 expression and regulation is essential for understanding the mechanisms underlying SMA and developing potential therapeutic interventions for this debilitating disease. This antibody serves as a valuable tool for studying SMN2 biology and exploring new treatment strategies for SMA and related neurological disorders.
Product Name:
SMN2 Rabbit Polyclonal Antibody
SKU:
CAB12508
Size:
20uL, 100uL
Isotype:
IgG
Host Species:
Rabbit
Reactivity:
Human,Mouse,Rat
Immunogen:
Recombinant fusion protein containing a sequence corresponding to amino acids 1-197 of human SMN2 (NP_059107.1).
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.
Purification Method:
Affinity purification
Gene ID:
6607
Storage Buffer:
Store at -20℃. Avoid freeze / thaw cycles.Buffer: PBS with 0.02% sodium azide,50% glycerol,pH7.3.
Western blot analysis of various lysates using SMN2 Rabbit pAb (CAB12508) at 1:1000 dilution.Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution.Lysates/proteins: 25μg per lane.Blocking buffer: 3% nonfat dry milk in TBST.Detection: ECL Basic Kit (AbGn00020).Exposure time: 10s.
