The SMN1 Antibody (CAB16246) is a high-quality antibody developed for reliable detection and analysis of target proteins. 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. RRID AB_2772314 Gene ID 6606 Swiss Prot Synonym SMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMNT; BCD541; GEMIN1; TDRD16A; T-BCD541; SMN1
This antibody is validated for use in WB, IHC-P, ELISA applications and has demonstrated reactivity against Human, Mouse, Rat samples.
Product Name:
SMN1 Antibody
SKU:
CAB16246
Size:
100μL, 20μL
Reactivity:
Human, Mouse, Rat
Clone Number:
-
Conjugate:
Unconjugated
Immunogen:
Recombinant protein (or fragment).This information is considered to be commercially sensitive.
Tested Applications:
WBIHC-PELISA
Recommended Dilution:
WB
1:500 - 1:2000
IHC-P
1:50 - 1:200
ELISA
Recommended starting concentration is 1 μg/mL. Please optimize the concentration based on your specific assay requirements.
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. RRID AB_2772314 Gene ID 6606 Swiss Prot Synonym SMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMNT; BCD541; GEMIN1; TDRD16A; T-BCD541; SMN1
Purification Method:
Affinity purification
Gene ID:
6606
RRID:
AB_2772314
Buffer Information:
Store at -20℃. Avoid freeze / thaw cycles. Buffer: PBS with 0.01% thimerosal,50% glycerol,pH7.3.
Western blot analysis of various lysates using SMN1 Rabbit pAb (CAB16246) at 1:1000 dilution. Secondary antibody: HRP-conjugated Goat anti-Rabbit IgG (H+L) (AS014) at 1:10000 dilution. Lysates/proteins: 25μg per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (AbGn00020). Exposure time: 90s.
Immunohistochemistry analysis of paraffin-embedded Rat lung using SMN1 Rabbit pAb (CAB16246) at dilution of 1:100 (40x lens). Microwave antigen retrieval performed with 0.01M PBS Buffer (pH 7.2) prior to IHC staining.
Immunohistochemistry analysis of paraffin-embedded Mouse kidney using SMN1 Rabbit pAb (CAB16246) at dilution of 1:100 (40x lens). Microwave antigen retrieval performed with 0.01M PBS Buffer (pH 7.2) prior to IHC staining.
