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Conjugation/Formulation：Un-conjugated
- Background 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. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014]
- Immunogen A synthetic peptide of human Gemin 1
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Gene ID
6606
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Swiss Prot
Q16637
- Synonyms SMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMNT; BCD541; GEMIN1; TDRD16A; T-BCD541
- Reactivity Human
- Application WB, ICC/IF
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Recommended dilution
WB: 1:1000
ICC/IF: 1:100-1:200 - Calculated MW 32 kDa
- Observed MW 35 kDa
- Host species Rabbit
- Clonality Monoclonal
- Clonality No. DGR13829
- Isotype IgG
- Purity Affinity Purification
- Conjugation Un-conjugated
- Storage/Stability Store at -20°C. Supplied in 50mM Tris-Glycine(pH 7.4), 0.15M NaCl, 40% Glycerol, 0.01% sodium azide and 0.05% BSA. Stable for 12 months from date of receipt.
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Western blot detection of SMN/Gemin 1 in K562,Hela cell lysates using SMN/Gemin 1 antibody(1:1000 diluted). -
Immunofluorescent analysis of HeLa cells using db11205 antibody (green), and DAPI (blue).
订购信息
- Package Price (RMB)
- 10μL 398
- 20μL 698
- 50μL 1398
- 100μL 2398
- 货期：现货
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For research use only. Not intended for diagnostic.
