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SMA4 Rabbit anti-Human, Polyclonal, Proteintech
SDP

Catalog No. 501726207 Shop All Proteintech Group Inc Products
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50-172-6207 150 μL
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Catalog No. 50-172-6207 Supplier Proteintech Group Inc Supplier No. 103181AP150UL
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Rabbit Polyclonal 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. Multiple transcript variants encoding distinct isoforms have been described.

Specifications

Antigen SMA4
Applications Western Blot
Classification Polyclonal
Concentration 0.13 mg/mL
Conjugate Unconjugated
Formulation PBS with 50% glycerol and 0.1% sodium azide; pH 7.3
Gene SMA4
Gene Alias b55C20.2, glucuronidase, beta pseudogene, SMA3, SMA4
Gene Symbols SMA4
Host Species Rabbit
Immunogen SMA4 Fusion Protein Ag0372
Purification Method Antigen Affinity Chromatography
Quantity 150 μL
Regulatory Status RUO
Primary or Secondary Primary
Gene ID (Entrez) 11039
Target Species Human
Content And Storage -20°C
Product Type Antibody
Form Liquid
Isotype IgG
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