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Key Specifications Table
| Species Reactivity | Key Applications | Host | Format | Antibody Type |
|---|---|---|---|---|
| H, M, Xn | WB, ICC, IP | M | Purified | Monoclonal Antibody |
| Description | |
|---|---|
| Catalogue Number | 04-1466 |
| Description | Anti-SMN Antibody, clone 62E7 |
| Alternate Names |
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| Background Information | The survival of motor neurons (SMN) protein is essential for the biogenesis of small nuclear RNA (snRNA)-ribonucleoproteins (snRNPs), the major components of the pre-mRNA splicing machinery. Though it is ubiquitously expressed, SMN deficiency causes the motor neuron degenerative disease spinal muscular atrophy (SMA). SMN deficiency, similar to that which occurs in severe SMA, has unexpected cell type-specific effects on the repertoire of snRNAs and mRNAs. It alters the stoichiometry of snRNAs and causes widespread pre-mRNA splicing defects in numerous transcripts of diverse genes, preferentially those containing a large number of introns, in SMN-deficient mouse tissues. These findings reveal a key role for the SMN complex in RNA metabolism and in splicing regulation and indicate that SMA is a general splicing disease that is not restricted to motor neurons. |
| Product Information | |
|---|---|
| Format | Purified |
| Control |
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| Presentation | Purified mouse monoclonal IgG1κ in buffer containing 0.1 M Tris-Glycine (pH 7.4, 150 mm NaCl) with 0.05% sodium azide. |
| Quality Level | MQ100 |
| Applications | |
|---|---|
| Application | Use Anti-SMN Antibody, clone 62E7 (Mouse Monoclonal Antibody) validated in WB, ICC, IP to detect SMN also known as Spinal muscular atrophy (Werdnig-Hoffmann disease Kugelberg-Welander disease). |
| Key Applications |
|
| Application Notes | Immunocytochemistry Analysis: 1:500 dilution from a representative lot detected SMN in HeLa cells. |
| Biological Information | |
|---|---|
| Immunogen | His-tagged recombinant protein corresponding to human SMN. |
| Epitope | Unknown |
| Clone | 62E7 |
| Concentration | Please refer to the Certificate of Analysis for the lot-specific concentration. |
| Host | Mouse |
| Specificity | Recognizes SMN. |
| Isotype | IgG1κ |
| Species Reactivity |
|
| Species Reactivity Note | Demonstrated to react with human. Predicted to react with mouse and xenopus based on sequence homology. |
| Antibody Type | Monoclonal Antibody |
| Entrez Gene Number |
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| Entrez Gene 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. |
| Gene Symbol |
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| Purification Method | Protein g Purified |
| UniProt Number |
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| UniProt Summary | FUNCTION: The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus. It may also play a role in the metabolism of snoRNPs. SUBUNIT STRUCTURE: Component of an import snRNP complex composed of KPNB1, RNUT1, SMN1 and ZNF259. Part of the core SMN complex that contains SMN1, SIP1/GEMIN2, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts with DDX20, FBL, NOLA1, RNUT1, SYNCRIP and with several spliceosomal snRNP core Sm proteins, including SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE and ILF3. Interacts with OSTF1. SUBCELLULAR LOCATION: Cytoplasm. Nucleus › gem. Note: Localized in subnuclear structures next to coiled bodies, called Gemini of Cajal bodies (Gems). TISSUE SPECIFICITY: Expressed in a wide variety of tissues. Expressed at high levels in brain, kidney and liver, moderate levels in skeletal and cardiac muscle, and low levels in fibroblasts and lymphocytes. Also seen at high levels in spinal cord. Present in osteoclasts and mononuclear cells (at protein level). INVOLVEMENT IN DISEASE: Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300]. Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Autosomal recessive forms are classified according to the age of onset, the maximum muscular activity achieved, and survivorship. The severity of the disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amount of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is a severe form, with onset before 6 months of age. SMA1 patients never achieve the ability to sit. Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550]. SMA2 is an autosomal recessive spinal muscular atrophy of intermediate severity, with onset between 6 and 18 months. Patients do not REACH the motor milestone of standing, and survive into adulthood. Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]. SMA3 is an autosomal recessive spinal muscular atrophy with onset after 18 months. SMA3 patients develop ability to stand and walk and survive into adulthood. Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 4 (SMA4) [MIM:271150]. SMA4 is an autosomal recessive spinal muscular atrophy characterized by symmetric proximal muscle weakness with onset in adulthood and slow disease progression. SMA4 patients can stand and walk. MISCELLANEOUS: The SMN gene is present in two highly homologous and functional copies (TelSMN/SMN1 and CenSMN/SMN2). The telomeric copy of SMN gene (TelSMN/SMN1) seems to be the SMA-determining gene while the centromeric copy seems unaffected. SEQUENCE SIMILARILITIES: Belongs to the SMN family. Contains 1 Tudor domain. |
| Molecular Weight | 35 kDa was observed; however, the calculated molecular weight is 31.849 kDa. |
| Product Usage Statements | |
|---|---|
| Quality Assurance | Evaluated by Western Blot in HeLa cell lysate. Western Blot Analysis: 0.5 µg/mL of this antibody detected SMN on 10 µg of HeLa cell lysate. |
| Usage Statement |
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| Storage and Shipping Information | |
|---|---|
| Storage Conditions | Stable for 1 year at 2-8°C from date of receipt. |
| Packaging Information | |
|---|---|
| Material Size | 100 µg |