SMN1 antibody

Catalog number: GTX101047_100ul
Brand: GeneTex
Packing: 100 ul
Other sizes: 25 ul
Price: € 334.00
Expected delivery time: 10 days
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Product specifications for - SMN1 antibody

Product group: Antibodies
Category: Primary Antibodies
Application: ImmunoCytoChemistry; ImmunoFluorescence; Western Blot
Species: Human
Host: Rabbit
Target: SMN1
Target description: survival of motor neuron 1, telomeric
Clonality: Polyclonal
Conjugation: Unconjugated
Isotype: IgG
Controle: 293T , A431 , HeLa , HepG2
Datasheet: Datasheet
  Research Use Only
UNSPSC: 12352203
Concentration: 1 mg/ml
Storage instructions: 2°C to 8°C, -20°C or -80°C
Scientific information: 
Scientific info: 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. [provided by RefSeq]
Gene ID: 6606
Swiss prot ID: Q16637
Additional information: 
Synonyms: BCD541; component of gems 1; gemin-1; GEMIN1; SMA; SMA@; SMA1; SMA2; SMA3; SMA4; SMN; SMNT; survival motor neuron 1 protein; survival motor neuron protein; survival of motor neuron 1 isoform D2A2B345; survival of motor neuron 1 isoform D2A2B3457; survival of motor neuron 1 isoform D2A3457; survival of motor neuron 1 isoform D2B3457; survival of motor neuron 1 isoform D345; survival of motor neuron 1 isoform D3457; survival of motor neuron 1 isoform D347; T-BCD541; TDRD16A; tudor domain containing 16A
"Application of urine cells in drug intervention for spinal muscular atrophy." Zhang QJ et al., 2017 Sep, Exp Ther Med Read more