Anti-SMN2 Antibody

Rs. 45,619.00
SKU stj29863

General Information

Product name Anti-SMN2 Antibody
Short Description Rabbit polyclonal to SMN1
Description 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.
Applications WB,IHC,IF,IP
Dilution range WB 1:500 - 1:2000
IHC 1:50 - 1:200
IF 1:50 - 1:200
IP 1:50 - 1:100
Protein Name Anti-SMN2 Antibody
Immunogen Recombinant fusion protein containing a sequence corresponding to amino acids 1-197 of human SMN2 (NP_059107.1).
Storage Instruction Store at -20℃. Avoid freeze / thaw cycles.
Type of Usage For Research Use Only (RUO).

Product Properties

Host Rabbit
Clonality Polyclonal
Reactivity
Conjugation Unconjugated
Purification Affinity purification
Isotype IgG
Formulation Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

Target

Gene ID
Gene Symbol
Molecular Weight 31.8 kDa
Database Links
Alternative Names SMN1Survival motor neuron protein antibodyComponent of gems 1 antibodyGemin-1SMN1 antibodySMN antibodySMNT; antibodySMN2 antibodySMNC
Function The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, Thereby, plays an important role in the splicing of cellular pre-mRNAs, Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP, In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP, Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus, Ensures the correct splicing of U12 intron-containing genes that may be important for normal motor and proprioceptive neurons development, Also required for resolving RNA-DNA hybrids created by RNA polymerase II, that form R-loop in transcription terminal regions, an important step in proper transcription termination, May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).
Cellular Localization Nucleus, gem.
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).
Swiss-Prot Key

 

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