The SMN1 Polyclonal Antibody (CAB16246) is a valuable tool for researchers studying Survival Motor Neuron (SMN1), a gene associated with spinal muscular atrophy (SMA), a devastating genetic disorder affecting motor neurons. This antibody, produced in rabbits, is highly specific for detecting SMN1 protein in human samples and is validated for use in Western blot applications.SMN1 is essential for the survival and proper function of motor neurons, and defects in this gene lead to SMA, a progressive neuromuscular disease that results in muscle weakness and atrophy.
By targeting SMN1 with this antibody, researchers can better understand the mechanisms underlying SMA and potentially develop targeted therapies to treat this debilitating condition.The SMN1 Polyclonal Antibody is a valuable tool for investigating the role of SMN1 in SMA pathology and may lead to new insights into disease mechanisms and potential treatment options for individuals affected by this genetic disorder. Its high specificity and reactivity make it an ideal choice for studies in molecular biology, neuroscience, and genetic research.
Product Name:
SMN1 Rabbit Polyclonal Antibody
SKU:
CAB16246
Size:
20uL, 100uL
Isotype:
IgG
Host Species:
Rabbit
Reactivity:
Human,Mouse,Rat
Immunogen:
Recombinant fusion protein containing a sequence corresponding to amino acids 11-169 of SMN1 (NP_000335.1).
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. 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. Multiple transcript variants encoding distinct isoforms have been described.
Purification Method:
Affinity purification
Gene ID:
6606
Storage Buffer:
Store at -20℃. Avoid freeze / thaw cycles.Buffer: PBS with 0.01% thimerosal,50% glycerol,pH7.3.
Western blot analysis of various lysates using SMN1 Rabbit pAb (CAB16246) 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: 90s.
