Anti-SMN1 Antibody (CAB9707)

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SKU:
CAB9707
Product type:
Antibody
Antibody Type:
Monoclonal Antibody
Reactivity:
Human
Reactivity:
Rat
Host Species:
Rabbit
Isotype:
IgG
Synonyms:
BCD541
Synonyms:
GEMIN1
Synonyms:
SMA
Synonyms:
SMA1
Synonyms:
SMA2
Synonyms:
SMA3
Synonyms:
SMA4
Synonyms:
SMA@
Synonyms:
SMN
Synonyms:
SMNT
Synonyms:
T-BCD541
Synonyms:
TDRD16A
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Description

抗体名:SMN1 Rabbit mAb
抗体コード:CAB9707
サイズ:20uL, 50uL, 100uL
同義語:BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMNT, T-BCD541, TDRD16A
申し込み:WB, IHC
反応性:Human, Rat
宿主種:Rabbit
免疫原:A synthesized peptide derived from human SMN1
申し込み:WB, IHC
推奨される希釈:WB 1:500 - 1:2000 IHC 1:50 - 1:200
反応性:Human, Rat
ポジティブサンプル:HeLa, HepG2
免疫原:A synthesized peptide derived from human SMN1
精製方法:Affinity purification
保管所:Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 0.05% BSA, 50% glycerol, pH7.3.
アイソタイプ:IgG
順序:Email for sequence
遺伝子ID:6606
Uniprot:Q16637
計算された分子量:36kDa
観察された分子量:38KDa
UniProt Protein Function: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.
UniProt Protein Details:

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

Molecular Function:identical protein binding; protein binding

Biological Process: 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

NCBI Summary: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. 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. 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 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. Four transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008]
UniProt Code:Q16637
NCBI GenInfo Identifier:2498924
NCBI Gene ID:6607
NCBI Accession:Q16637.1
UniProt Secondary Accession:Q16637,Q13119, Q549U5, Q96J51, A8K0V4,
UniProt Related Accession:Q16637
Molecular Weight:32kDa
NCBI Full Name:Survival motor neuron protein
NCBI Synonym Full Names:survival of motor neuron 2, centromeric
NCBI Official Symbol:SMN2  
NCBI Official Synonym Symbols:SMNC; BCD541; GEMIN1; TDRD16B; C-BCD541  
NCBI Protein Information:survival motor neuron protein
UniProt Protein Name:Survival motor neuron protein
UniProt Synonym Protein Names:Component of gems 1; Gemin-1
UniProt Gene Name:SMN1  
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