Gemin 1 (SMN2) Rabbit Polyclonal Antibody

SKU
TA343297
Rabbit Polyclonal Anti-SMN2 Antibody
  $585.00
5 Days*
Bulk/Customize
Specifications
Specifications
Product Data
Application WB
Recommended Dilution WB
Reactivity Human
Antibody Host Rabbit
Isotype IgG
Clonality Polyclonal
Immunogen The immunogen for anti-SMN2 antibody is: synthetic peptide directed towards the N-terminal region of SMN2. Synthetic peptide located within the following region: KHALKNGDICETSGKPKTTPKRKPAKKNKSQKKNTAASLQQWKVGDKCSA
Buffer Liquid. Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
Conjugation Unconjugated
Storage Store at -20°C as received.
Stability Stable for 12 months from date of receipt.
Shipping Blue Ice
Predicted Protein Size 27 kDa
Gene Name survival of motor neuron 2, centromeric
Database Link
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. 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.
Synonyms BCD541; C-BCD541; GEMIN1; SMNC; TDRD16B
Note Immunogen Sequence Homology: Human: 100%; Dog: 93%; Horse: 92%; Pig: 86%; Rabbit: 85%; Goat: 82%; Mouse: 79%
Reference Data
Protein Families Druggable Genome
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