SMN1 Antibody

SMN1 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.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. 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. Two transcript variants are produced by this gene.

6606

Q16637

NP_075012

Human, Dog

Antibody produced in rabbits immunized with a synthetic peptide corresponding a region of human SMN1.

Unconjugated

Primary Antibodies

Other

Antibody is purified by peptide affinity chromatography method.

Cat. No. 1211 - HepG2 Cell Lysate

Batch dependent

Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.

None

Blue Ice

For short periods of storage (days) store at 4˚ C. For longer periods of storage, store SMN1 antibody at -20˚ C. As with any antibody avoid repeat freeze-thaw cycles.

28 kDa

SMN1 antibody can be used for detection of SMN1 by ELISA at 1:62500. SMN1 antibody can be used for detection of SMN1 by western blot at 0.5 μ g/mL, and HRP conjugated secondary antibody should be diluted 1:50,000 - 100,000.

SMN1

Survival of motor neuron 1, telomeric

Homo sapiens

Hirano, M., (2008) Arch. Neurol. 65 (3), 403-406.

SMN1, BCD541, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMNT, T-BCD541, GEMIN1, TDRD16A

ELISA, WB

13259512