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SMN2 Monoclonal Antibody (1A3-2B9)
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Product Details
H00006607-M02
Applications
Tested Dilution
Publications
Product Specifications
Species Reactivity
Human
Host/Isotype
Mouse
/ IgG2a, kappa
Class
Monoclonal
Type
Antibody
Clone
1A3-2B9
Immunogen
SMN2 (AAH00908, 1 a.a. approximately 282 a.a) full-length recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Conjugate
Form
Liquid
Concentration
See Label
Amount
100 µg
Purification
Affinity chromatography
Storage buffer
PBS, pH 7.4
Contains
no preservative
Storage conditions
-20°C, Avoid Freeze/Thaw Cycles
Shipping conditions
Ambient (domestic); Wet ice (international)
Product Specific Information
Sequence of this protein is as follows: MAMSSGGSGG GVPEQEDSVL FRRGTGQSDD SDIWDDTALI KAYDKAVASF KHALKNGDIC ETSGKPKTTP KRKPAKKNKS QKKNTAASLQ QWKVGDKCSA IWSEDGCIYP ATIASIDFKR ETCVVVYTGY GNREEQNLSD LLSPICEVAN NIEQNAQENE NESQVSTDES ENSRSPGNKS DNIKPKSAPW NSFLPPPPPM PGPRLGPGKP GLKFNGPPPP PPPPPPHLLS CWLPPFPSGP PIIPPPPPIC PDSLDDADAL GSMLISWYMS GYHTGYYMEM LA
Target Information
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
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Bioinformatics
Protein Aliases: centromeric; Component of gems 1; Gemin-1; putative open reading frame; duplicate of the functional spinal muscular atrophy gene, cDNA clone BCD514, GenBank Accession Number U18423; it is not known if this copy of the gene is actually translated; Survival motor neuron protein; Survival Of Motor Neuron 2; tudor domain containing 16B; unnamed protein product; XLRS1
Gene Aliases: BCD541; C-BCD541; GEMIN1; SMN; SMN1; SMN2; SMNC; SMNT; TDRD16B
UniProt ID: (Human) Q16637
Entrez Gene ID: (Human) 6607
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Performance Guarantee
If an Invitrogen™ antibody doesn't perform as described on our website or datasheet,we'll replace the product at no cost to you, or provide you with a credit for a future purchase.*
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