SMN1 monoclonal antibody, clone 5H1
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Specifications
Product Description
Mouse monoclonal antibody raised against recombinant SMN1.
Immunogen
Recombinant protein corresponding to human SMN1.
Host
Mouse
Theoretical MW (kDa)
39
Reactivity
Human
Form
Liquid
Isotype
IgG1
Recommend Usage
ELISA (1:10000)
Western Blot (1:500-1:2000)
Immunohistochemistry (1:200-1:1000)
Immunofluorescence (1:200-1:1000)
The optimal working dilution should be determined by the end user.Storage Buffer
In ascites (0.03% sodium azide)
Storage Instruction
Store at 4°C. For long term storage store at -20°C.
Aliquot to avoid repeated freezing and thawing.Note
This product contains sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
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Applications
Western Blot (Cell lysate)
Western blot analysis using SMN1 monoclonal antobody, clone 5H1 (Cat # MAB10324) against RAJI (1), COS-7 (2), Jurkat (3), K-562 (4), HeLa (5) and HepG2 (6) cell lysate.Immunohistochemistry (Formalin/PFA-fixed paraffin-embedded sections)
Immunohistochemical analysis of paraffin-embedded human breast cancer tissue (A), testis tissue (B), stomach cancer tissue (C) and brain tumor (D) using SMN1 monoclonal antobody, clone 5H1 (Cat # MAB10324) with DAB staining.Immunofluorescence
Immunofluorescence analysis of HepG2 cells using SMN1 monoclonal antobody, clone 5H1 (Cat # MAB10324) (green). Blue: DRAQ5 fluorescent DNA dye. Red: Actin filaments have been labeled with Alexa Fluor-555 phalloidin.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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Interactomes
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Diseases
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Publication Reference
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The Protective Effects of Levetiracetam on a Human iPSCs-Derived Spinal Muscular Atrophy Model.
Ando S, Funato M, Ohuchi K, Inagaki S, Sato A, Seki J, Kawase C, Saito T, Nishio H, Nakamura S, Shimazawa M, Kaneko H, Hara H.
Neurochemical Research 2019 Jul; 44(7):1773.
Application:WB-Ce, Human, Human iPSCs‑derived spinal motor neurons.
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The Protective Effects of Levetiracetam on a Human iPSCs-Derived Spinal Muscular Atrophy Model.
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