SMN1 Rabbit mAb
Sizes: 20µl, 100µl
Catalogue Numbers: A9707-20, A9707-100
Citations, Manuals and SDS Available upon request.
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.
Synonyms: SMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMNT; BCD541; GEMIN1; TDRD16A; T-BCD541; SMN1
GeneID: 6606
Swiss-Prot: Q16637
Reactivity: Human, Rat
Calculated Molecular Weight: 32kDa
Observed Molecular Weight: 38kDa
Immunogen: Recombinant fusion protein containing a sequence corresponding to amino acids 103-200 of human SMN1 (Q16637).
Immunogen Species: Human
Host: Rabbit
Isotype: IgG
Purity: Affinity purification
Tested Applications: ELISA, WB, IHC-P
Storage Buffer: Store at -20℃. Avoid freeze / thaw cycles. | Buffer: PBS with 0.02% sodium azide, 0.05% BSA, 50% glycerol, pH7.3.
Recommended Dilutions: WB: 1:500 - 1:1000 | IHC-P: 1:50 - 1:200
Research Areas: Neuroscience, Neurology process, Neural Signal Transduction, Epigenetics and Nuclear Signaling, DNA / RNA, RNA Processing, Splicing, Neuroscience, Processes
Modifications: Unmodified
Conjugate: Unconjugated
Positive Samples: HeLa, HepG2
Cellular Location: Cajal Body, Cytoplasm, Cytoplasmic Ribonucleo Protein Granule, Cytosol, Gemini of coiled bodies, Nuclear Body, Nucleoplasm, Nucleus, SMN-Sm Protein Complex, Z Disc,
Category: Monoclonal Antibodies
Citations, Manuals and SDS Available upon request.