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SMN2 Antibody (PA5-119447) in IHC (P)
Immunohistochemistry analysis of SMN2 in paraffin-embedded Human Esophagus tissue. Samples were incubated with polyclonal antibody (Product # PA5-119447) at a dilution of 20 µg/mL, followed by HRP-Linked Caprine Anti-Rabbit IgG using a dilution of 2 µg/mL.
Product Details
PA5-119447
Applications
Tested Dilution
Publications
Product Specifications
Species Reactivity
Human,
Mouse
Host/Isotype
Rabbit
/ IgG
Class
Polyclonal
Type
Antibody
Immunogen
Recombinant protein Survival Of Motor Neuron 2, Centromeric. The antigen corresponds to amino acid range 16-251 of the target protein.
Conjugate
Form
Liquid
Concentration
0.5 mg/mL
Purification
Protein A/G
Storage buffer
PBS, pH 7.4, with 50% glycerol
Contains
0.05% ProClin 300
Storage conditions
Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles.
Shipping conditions
Wet ice
RRID
AB_2903945
Target Information
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
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Bioinformatics
Protein Aliases: Component of gems 1; Gemin-1; Survival motor neuron protein; Survival Of Motor Neuron 2; tudor domain containing 16B; XLRS1
Gene Aliases: BCD541; C-BCD541; GEMIN1; SMN; SMN1; SMN2; SMNC; SMNT; TDRD16B
UniProt ID: (Human) Q16637
Entrez Gene ID: (Human) 6607
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