SMN1/2 Antibody

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.

9007-83-4

Western blot: 0.5-1 µg/mL, IHC (FFPE) : 0.5-1 µg/mL, ICC: 0.5-1 µg/mL

Q16637

Human

Amino acids RRGTGQSDDSDIWDDTALIKAYDKAVASFKH were used as the immunogen for the SMN1/2 antibody.

3D10

WB, IHC-P, ICC

Protein G affinity

Purified

Lyophilized from 1X PBS with 2% Trehalose and 0.025% sodium azide

After reconstitution, the SMN1/2 antibody can be stored for up to one month at 4oC. For long-term, aliquot and store at -20oC. Avoid repeated freezing and thawing.

This SMN1/2 antibody is available for research use only.

After reconstitution, the SMN1/2 antibody can be stored for up to one month at 4°C. For long-term, aliquot and store at -20°C. Avoid repeated freezing and thawing.

0.5 mg/mL if reconstituted with 0.2ml sterile DI water

Optimal dilution of the SMN1/2 antibody should be determined by the researcher.

Nuclear, cytoplasmic