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SMN1 Produkte

(Survival of Motor Neuron 1, Telomeric (SMN1))

Kategorien

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, Sep 2008].

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Ausgewählte SMN1 Kategorien

SMN1 Antikörper

High quality antibodies with extensive validation data.

SMN1 ELISA Kits

Reliable ELISA kits for a wide range of species.

SMN1 Proteine

Proteins for various applications incl. WB, ELISA, IF etc.

Empfohlene SMN1 Antikörper

Produkt
Reaktivität
Applikation
Validierungen
Kat. Nr.
Menge
Datenblatt
Reaktivität Human, Monkey
Applikation WB, ELISA, IHC, ICC
Validierungen
  • (1)
  • (5)
Kat. Nr. ABIN969408
Menge 100 μL
Datenblatt Datenblatt
Reaktivität Human, Monkey
Applikation WB, ELISA, IHC, FACS
Validierungen
  • (1)
  • (4)
Kat. Nr. ABIN969407
Menge 100 μL
Datenblatt Datenblatt
Reaktivität Human
Applikation WB, IHC
Validierungen
  • (4)
Kat. Nr. ABIN7270652
Menge 100 μL
Datenblatt Datenblatt

Empfohlene SMN1 ELISA Kits

Produkt
Reaktivität
Analytical Method
Validierungen
Kat. Nr.
Menge
Datenblatt
Reaktivität Human
Analytical Method Quantitative Sandwich ELISA
Validierungen
  • (1)
Kat. Nr. ABIN6970496
Menge 96 tests
Datenblatt Datenblatt
Reaktivität Mouse
Analytical Method Quantitative Sandwich ELISA
Validierungen
  • (1)
Kat. Nr. ABIN6970497
Menge 96 tests
Datenblatt Datenblatt
Reaktivität Human
Analytical Method Quantitative Sandwich ELISA
Validierungen
Kat. Nr. ABIN511601
Menge 96 tests
Datenblatt Datenblatt

Empfohlene SMN1 Proteine

Produkt
Reaktivität
Source
Validierungen
Kat. Nr.
Menge
Datenblatt
Reaktivität Human
Source Wheat germ
Validierungen
  • (1)
Kat. Nr. ABIN1320589
Menge 10 μg
Datenblatt Datenblatt
Reaktivität Human
Source Wheat germ
Validierungen
  • (1)
Kat. Nr. ABIN1320585
Menge 10 μg
Datenblatt Datenblatt
Reaktivität Human
Source Escherichia coli (E. coli)
Validierungen
Kat. Nr. ABIN7416892
Menge 100 μg
Datenblatt Datenblatt

Neueste Publikationen zu unseren SMN1 Produkten

Zhang, Lin, Li, Lu, Guo, Dong, Zhao, He, Wang, Chen: "Application of urine cells in drug intervention for spinal muscular atrophy." in: Experimental and therapeutic medicine, Vol. 14, Issue 3, pp. 1993-1998, (2017) (PubMed).

Rashnonejad, Chermahini, Li, Ozkinay, Gao: "Large-Scale Production of Adeno-Associated Viral Vector Serotype-9 Carrying the Human Survival Motor Neuron Gene." in: Molecular biotechnology, Vol. 58, Issue 1, pp. 30-6, (2016) (PubMed).

Gabanella, Pisani, Borreca, Farioli-Vecchioli, Ciotti, Ingegnere, Onori, Ammassari-Teule, Corbi, Canu, Monaco, Passananti, Di Certo: "SMN affects membrane remodelling and anchoring of the protein synthesis machinery." in: Journal of cell science, Vol. 129, Issue 4, pp. 804-16, (2016) (PubMed).

Hendrickson, Donohoe, Akmaev, Sugarman, Labrousse, Boguslavskiy, Flynn, Rohlfs, Walker, Allitto, Sears, Scholl: "Differences in SMN1 allele frequencies among ethnic groups within North America." in: Journal of medical genetics, Vol. 46, Issue 9, pp. 641-4, (2009) (PubMed).

Benton, Kern, Leinwand, Mariner, Anseth: "Statins block calcific nodule formation of valvular interstitial cells by inhibiting alpha-smooth muscle actin expression." in: Arteriosclerosis, thrombosis, and vascular biology, Vol. 29, Issue 11, pp. 1950-7, (2009) (PubMed).

Ogawa, Usui, Aoki, Ito, Itoh, Kai, Kanamori-Katayama, Hayashizaki, Suzuki: "Gemin2 plays an important role in stabilizing the survival of motor neuron complex." in: The Journal of biological chemistry, Vol. 282, Issue 15, pp. 11122-34, (2007) (PubMed).

Grondard, Biondi, Armand, Lécolle, Della Gaspera, Pariset, Li, Gallien, Vidal, Chanoine, Charbonnier: "Regular exercise prolongs survival in a type 2 spinal muscular atrophy model mouse." in: The Journal of neuroscience : the official journal of the Society for Neuroscience, Vol. 25, Issue 33, pp. 7615-22, (2005) (PubMed).

Liu, Dreyfuss: "A novel nuclear structure containing the survival of motor neurons protein." in: The EMBO journal, Vol. 15, Issue 14, pp. 3555-65, (1996) (PubMed).

Synonyme und alternative Namen zu SMN1

survival motor neuron protein (LOC461829), survival of motor neuron 1, telomeric (Smn1), survival of motor neuron 1, telomeric (SMN1), survival motor neuron 1 (Smn1), survival of motor neuron 2, centromeric (SMN2), survival motor neuron protein-like (LOC100348318), survival motor neuron (SMN), survival motor neuron protein (LOC100713418), survival motor neuron protein (LOC100065744), survival motor neuron protein (LOC102176643), survival of motor neuron 1, telomeric (smn1), AI849087, BCD541, fa12d01, GEMIN1, Gemin1, QtsA-10002, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, Smn, SMN, smn, SMN1, SMN2, SMNT, T-BCD541, TDRD16A, wu:fa12d01

Bezeichner auf Proteinebene für SMN1

  • survival of motor neuron 2, centromeric
  • survival motor neuron 1
  • survival motor neuron protein
  • component of gems 1
  • gemin-1
  • survival motor neuron 1 protein
  • tudor domain containing 16A
  • survival of motor neuron protein
  • survival of motor neuron 1, telomeric
  • survival motor neuron protein 1
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