SMN1 polyclonal antibody
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Specification
Product Description
Rabbit polyclonal antibody raised against synthetic peptide of SMN1.
Immunogen
A synthetic peptide corresponding to C-terminus of human SMN1.
Host
Rabbit
Theoretical MW (kDa)
35
Reactivity
Human
Specificity
This antibody recognizes ~35 KDa of human SMN1.
Form
Liquid
Purification
Affinity purification
Recommend Usage
ELISA (0.01-0.1 ug/mL)
Immunohistochemistry (2-5 ug/mL)
Immunoprecipitation (2-5 ug/mL)
Western Blot (0.1-1 ug/mL)
The optimal working dilution should be determined by the end user.Storage Buffer
In PBS, pH 7.2 (Antibody Stabilizer).
Storage Instruction
Store at 2-8°C for three months without detectable loss of activity. For long term storage store at -20°C to -80°C.
Aliquot to avoid repeated freezing and thawing. -
Applications
Western Blot (Cell lysate)
The cell lysate derived from HeLa was immunoprobed by SMN1 polyclonal antibody (Cat # PAB12734) at 1 : 500.
An immunoreactive band is observed around ~35 kDa (1). This band is abolished by pre-incubation with immunizing peptide (2).Immunohistochemistry
Immunoprecipitation
Enzyme-linked Immunoabsorbent Assay
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Gene Info — SMN1
Entrez GeneID
6606Gene Name
SMN1
Gene Alias
BCD541, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMNT, T-BCD541
Gene Description
survival of motor neuron 1, telomeric
Gene Ontology
HyperlinkGene Summary
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. Two transcript variants encoding distinct isoforms have been described. [provided by RefSeq
Other Designations
OTTHUMP00000125198|gemin 1
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Interactome
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Disease
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Publication Reference
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Gemin2 plays an important role in stabilizing the survival of motor neuron complex.
Ogawa C, Usui K, Aoki M, Ito F, Itoh M, Kai C, Kanamori-Katayama M, Hayashizaki Y, Suzuki H.
The Journal of Biological Chemistry 2007 Feb; 282(15):11122.
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Gemin2 plays an important role in stabilizing the survival of motor neuron complex.
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