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SMN2 蛋白

(Survival of Motor Neuron 2, Centromeric (SMN2))
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].

2 results :

SMN2 宿主: 人 宿主: 小麦胚 Recombinant WB, ELISA, AP, AA
Pubmed 1 reference
产品编号 ABIN1320680
 
SMN2 宿主: 人 宿主: 大肠杆菌(E. Coli) Recombinant > 95 % WB, SDS, Imm, PC
产品编号 ABIN7397549
 
  • 类型 Protein
    • Protein
  • 应用范围
    • Western Blotting (WB)
    • Affinity Purification (AP)
    • Antibody Array (AA)
    • ELISA
    • Immunogen (Imm)
    • Positive Control (PC)
    • SDS-PAGE (SDS)
  • 适用
    • Human
  • 论文引用
  • 图像
  • 抗体来源
    • Escherichia coli (E. coli)
    • Wheat germ
  • 抗原表位
    • AA 1-282
    • AA 16-251
  • 标记
    • GST tag
    • His tag
  • 蛋白类型
    • Recombinant
  • Format
    • Lyophilized
  • Supplier
    • antibodies-online

Latest Publications for our SMN2 蛋白

Cucchiarini, Madry, Terwilliger: "Enhanced expression of the central survival of motor neuron (SMN) protein during the pathogenesis of osteoarthritis." in: Journal of cellular and molecular medicine, Vol. 18, Issue 1, pp. 115-24, (2013) (PubMed).

Aliases for SMN2 蛋白

survival of motor neuron 2, centromeric (SMN2) 蛋白
survival of motor neuron 2, centromeric L homeolog (smn2.L) 蛋白
BCD541 蛋白
bcd541 蛋白
C-BCD541 蛋白
c-bcd541 蛋白
gemin-1 蛋白
GEMIN1 蛋白
smn2 蛋白
SMNC 蛋白
smnc 蛋白
TDRD16B 蛋白
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