Survival of Motor Neuron 1, Telomeric / Survival of Motor Neuron 2, Centromeric (Survival of Motor Neuron 1 (Telomeric), SMNT, Survival of Motor Neuron 1, Survival Motor Neuron 1 Protein, SMN1, Survival of Motor Neuron 2 (Centromeric), SMN2, SMNC, BCD541,

SMN1/SMN2 is part of a 500kb 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. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene 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 full length 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.\n\nApplications: \nSuitable for use in ELISA and Western Blot. Other applications not tested.\n\nRecommended Dilution:\nPeptide ELISA: 1:1000\nWestern Blot: 2-4ug/ml. Observed ~26kD band in human brain (cerebellum) lysates. \nOptimal dilutions to be determined by the researcher.\n\nStorage and Stability:\nMay be stored at 4 degrees C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degrees C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

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SPECIFICATIONS

Catalog Number

S8495-10

Size

100ug

Applications

ELISA, WB

Hosts

Goat

Reactivities

Hum

Form

Supplied as a liquid in Tris-saline, pH 7.3, 0.5% BSA, 0.02% sodium azide.

P Type

Pab

Purity

Purified by immunoaffinity chromatography.

Isotype

IgG

References

1. Setola V, Terao M, Locatelli D, Bassanini S, Garattini E, Battaglia G. Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis.Proc Natl Acad Sci U S A. 2007 Feb 6;104(6):1959-64. Epub 2007 Jan 29. PMID: 17261814.

Additional Info

Recognizes human Survival of Motor Neuron 1, Telomeric and Survival of Motor Neuron 2, Centromeric.