Name: Anti-SMN2 antibody
Price: 297.00 USD

Overview
- 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.
  
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Properties
- Host
  
  rabbit
  
  Antibody Type
  
  polyclonal
  
  Isotype
  
  IgG
  
  Reactivity
  
  human; mouse; rat
  
  Immunogen
  
  Recombinant fusion protein containing a sequence corresponding to amino acids 1-197 of human SMN2 (NP_059107. 1).
  
  Purification
  
  Affinity purification
  
  Conjugate
  
  Unconjugated
  
  Formulation
  
  PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
  
  Storage
  
  Store at -20°C and avoid freeze-thaw cycles.
  
  Regulatory Status
  
  RUO
  
  Antigen
  
  Survival Motor Neuron Protein; Component Of Gems 1; Gemin-1 (Gene ID:6606; UniProt:Q16637)
  
  * For research use only