Millipore Sigma Vibrant Logo

AB2221 Anti-human a-SMN Antibody

This Anti-human a-SMN Antibody is validated for use in WB for the detection of human a-SMN.

Anti-human a-SMN Antibody : FDS (Fiches de données de sécurité), certificats d’analyse (CoA) et de qualité (CoQ), dossiers, brochures et autres documents disponibles.
Research Category: Neuroscience Research Sub-Category: Developmental Neuroscience Gene Symbol: BCD541, Gemin-1, OTTHUMP00000125198, SMA, SMA1, SMA2 , SMA3, SMA4, SMA@, SMN , SMNC , SMNT , T-BCD541 UniProt Number: Q16637
AB2221
100 µg  
Prix en cours de récupération
Le prix n'a pas pu être récupéré
La quantité minimale doit être un multiple de
Maximum Quantity is
À la validation de la commande Plus d'informations
Vous avez sauvegardé ()
 
—
Demander le prix
—
Exécution et livraison retardées Exécution et livraison retardées
En stock 
Interrompu(e)
Disponible en quantités limitées
Disponibilité à confirmer
    Pour le restant : Nous vous tiendrons informé
      Pour le restant : Nous vous tiendrons informé
      Nous vous tiendrons informé
      Contacter le Service Clients
      Contact Customer Service

      Offres spéciales

       

      Contacter le Service Clients

      Aperçu

      Replacement Information

      Offres spéciales

      100% Performance Guaranteed

      Tableau de caractéristiques principal

      Species ReactivityKey ApplicationsHostFormatAntibody Type
      H, RWBRbPurifiedPolyclonal Antibody
      Description
      Catalogue NumberAB2221
      DescriptionAnti-human a-SMN Antibody
      Alternate Names
      • Component of gems 1
      • gemin 1
      • spinal muscular atrophy (Werdnig-Hoffmann disease,
      • Kugelberg-Welander disease)
      • survival of motor neuron 1, telomeric
      Background InformationSpinal muscular atrophy (SMA), an autosomal recessive disease, leads to the selective loss of motor neurons. Axonal-SMN (a-SMN), an alternatively spliced form of the telomeric survival motor neuron gene, SMN, has been attributed to causing SMA. a-SMN includes the entire sequence of SMN intron 3. The a-SMN transcript and protein are down-regulated during early development in different tissues. In the spinal cord, the a-SMN protein is selectively expressed in motor neurons and mainly localized in axons, and has been implicated in motor neuron axonogenesis.
      References
      Product Information
      FormatPurified
      Control
      • Western Blot : HeLa cell lysate.
      PresentationPurified in 0.1M Tris-Glycine (pH7.4) 150mM NaCl with 0.05% NaN3.
      Applications
      ApplicationThis Anti-human a-SMN Antibody is validated for use in WB for the detection of human a-SMN.
      Key Applications
      • Western Blotting
      Biological Information
      ImmunogenKLH conjugated synthetic peptide of an intron 3 region of human a-SMN.
      EpitopeIntron 3 region
      ConcentrationPlease refer to the Certificate of Analysis for the lot-specific concentration.
      HostRabbit
      SpecificityThe antibody reacts with an 18.9 kDa human a-SMN protein.
      Species Reactivity
      • Human
      • Rat
      Species Reactivity NoteReacts with human and rat. Other species have not been tested.
      Antibody TypePolyclonal Antibody
      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
      • BCD541
      • Gemin-1
      • OTTHUMP00000125198
      • SMA
      • SMA1
      • SMA2
      • SMA3
      • SMA4
      • SMA@
      • SMN
      • SMNC
      • SMNT
      • T-BCD541
      Purification MethodAntigen Affinity Purified
      UniProt Number
      UniProt SummaryFUNCTION: 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 SIMILARITIES: Belongs to the SMN family.Contains 1 Tudor domain.
      Molecular Weight18.9 kDa
      Physicochemical Information
      Dimensions
      Materials Information
      Toxicological Information
      Safety Information according to GHS
      Safety Information
      Product Usage Statements
      Quality AssuranceWestern Blot Analysis: 1:1,000 dilution of this antibody detected a-SMN in HeLa cell lysate.
      Usage Statement
      • Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
      Storage and Shipping Information
      Storage ConditionsStore at 2-8°C for 1 year from date of receipt.
      Packaging Information
      Material Size100 µg
      Transport Information
      Supplemental Information
      Specifications
      Global Trade ITEM Number
      Référence GTIN
      AB2221 04053252733253

      Documentation

      Required Licenses

      Title
      PRODUCTO REGULADO POR LA SECRETARÍA DE SALUD

      Anti-human a-SMN Antibody Certificats d'analyse

      TitreNuméro de lot
      Anti-human a-SMN - NRG166572 NRG166572

      Références bibliographiques

      Aperçu de la référence bibliographiqueNº PubMed
      Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis.
      Setola, Veronica, et al.
      Proc. Natl. Acad. Sci. U.S.A., 104: 1959-64 (2007)  2007

      Afficher le résumé       		17261814 17261814

      Produits & Applications associés

      Related Products

      Référence Description  
      03-178 RIPAb+ SMN - RIP Validated Antibody and Primer Set Prix & Disponibilité
      03-200 RIPAb+ SMN - RIP Validated Antibody and Primer Set Prix & Disponibilité
      04-1466 Anti-SMN Antibody, clone 62E7 Prix & Disponibilité
      05-1532 Anti-SMN Antibody, clone 2B1 Prix & Disponibilité
      AB2223 Anti-mouse a-SMN Antibody Prix & Disponibilité
      MABE230 Anti-SMN2 Antibody, clone SMN-KH Prix & Disponibilité

      Catégories

      Life Science Research > Antibodies and Assays > Primary Antibodies