antibody

SMN Rabbit Polyclonal

MBS7604263

0.1 mg

290 USD

polyclonal

rabbit

nonconjugated

human, mouse, rat

western blot, ELISA, immunohistochemistry, immunocytochemistry

Antibody

SMN Rabbit Polyclonal

[SMN]

[C BCD541, Component of gems 1, FLJ76644, Gemin 1, SMN, SMN1,SMN1,SMN, SMN2, SMNC, SMNT, Survival motor neuron protein]

[survival motor neuron protein SMN; Survival motor neuron protein; survival motor neuron protein; survival of motor neuron 1, telomeric; Component of gems 1; Gemin-1]

[SMN]

[SMN1; SMN1; SMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMNT; BCD541; GEMIN1; TDRD16A; T-BCD541; SMN; SMNT]

SMN_HUMAN

Polyclonal

IgG

Rabbit

Human, Mouse, Rat

294

Human, Mouse ,Rat; other species are not tested. Please decide the specificity by homology

Purification: Immunogen affinity purified. Purity: > = 95% as determined by SDS-PAGE

Liquid

-20 degree C for 24 months (Avoid repeated freeze / thaw cycles.)

ELISA, Immunohistochemistry (IHC), Immunofluorescence (IF), Western Blot (WB)

WB: 1:500-1:5000. IHC: 1:50-1:200. IF: 1:10-1:100

Immunohistochemistry

SDS-PAGE

Immunogen: Survival of motor neuron 2, centromeric

Buffer: PBS with 0.02% sodium azide and 50% glycerol pH 7.3

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by loss of anterior horn cells in the spinal cord and concomitant symmetrical muscle weakness and atrophy (PMID: 16364894 ). SMA is caused by deletion or mutations of the survival motor neuron (SMN1) gene. SMA patients lack a functional SMN1 gene, but they possess an intact SMN2 gene, which though nearly identical to SMN1, is only partially functional (PMID: 17355180). A large majority of SMN2 transcripts lack exon 7, resulting in production of a truncated, less stable SMN protein (PMID: 10369862). The level of SMN protein correlates with phenotypic severity of SMA. This antibody, 11708-1-AP, raised against the recombinant full-length human SMN2 protein, recognizes all isoforms of SMN protein.

1737214

AAC52048.1

Q16637

38kd

Gene Expression Pathway (1269649); Metabolism Of Non-coding RNA Pathway (1269731); RNA Transport Pathway (177876); RNA Transport Pathway (175229); Survival Motor Neuron (SMN) Complex Pathway (470350); Survival Motor Neuron (SMN) Complex Pathway (890635); SnRNP Assembly Pathway (1269732)

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. [provided by RefSeq, Jul 2014]

SMN: The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus. It may also play a role in the metabolism of snoRNPs. Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 1 (SMA1). Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Autosomal recessive forms are classified according to the age of onset, the maximum muscular activity achieved, and survivorship. The severity of the disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amount of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is a severe form, with onset before 6 months of age. SMA1 patients never achieve the ability to sit. Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 2 (SMA2). SMA2 is an autosomal recessive spinal muscular atrophy of intermediate severity, with onset between 6 and 18 months. Patients do not reach the motor milestone of standing, and survive into adulthood. Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 3 (SMA3). SMA3 is an autosomal recessive spinal muscular atrophy with onset after 18 months. SMA3 patients develop ability to stand and walk and survive into adulthood. Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 4 (SMA4). SMA4 is an autosomal recessive spinal muscular atrophy characterized by symmetric proximal muscle weakness with onset in adulthood and slow disease progression. SMA4 patients can stand and walk. Belongs to the SMN family. 4 isoforms of the human protein are produced by alternative splicing. Protein type: RNA processing; RNA-binding. Chromosomal Location of Human Ortholog: 5q13.2. Cellular Component: Cajal body; cytoplasm; cytosol; neuron projection; nucleoplasm; nucleus; perikaryon; SMN complex; Z disc. Molecular Function: identical protein binding; protein binding; RNA binding. Biological Process: nervous system development; nuclear import; spliceosomal snRNP biogenesis; spliceosome assembly; transcription termination. Disease: Spinal Muscular Atrophy, Type I; Spinal Muscular Atrophy, Type Ii; Spinal Muscular Atrophy, Type Iii; Spinal Muscular Atrophy, Type Iv

0.1 mg

290 USD