SMN1 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. Two transcript variants encoding distinct isoforms have been described.

66066607

Q16637

Q16637

Human

This SMN1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 262-288 amino acids from the C-terminal region of human SMN1.

Unconjugated

Primary Antibodies

Neuroscience, Signal Transduction

This antibody is purified through a protein A column, followed by peptide affinity purification.

Batch dependent

Predicted species reactivity based on immunogen sequence: Monkey

Supplied in PBS with 0.09% (W/V) sodium azide.

None

Blue Ice

Store at 4˚ C for three months and -20˚ C, stable for up to one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.

32 kDa

Rabbit Ig

For WB starting dilution is: 1:1000

SMN1

Survival motor neuron protein

Homo sapiens

Todd, A.G., et al. J. Mol. Biol. 401 (5) :681-689 (2010)

Sheng-Yuan, Z., et al. Eur. J. Hum. Genet. 18 (9) :978-984 (2010)

Liu, W.L., et al. Zhongguo Dang Dai Er Ke Za Zhi 12 (7) :539-543 (2010)

Wang, C.C., et al. Anal Bioanal Chem 397 (6) :2375-2383 (2010)

Survival motor neuron protein, Component of gems 1, Gemin-1, SMN1, SMN, SMNT

WB

2498924