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SMN1 产品

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

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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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Featured SMN1 Categories

SMN1 抗体

High quality antibodies with extensive validation data.

SMN1 ELISA试剂盒

Reliable ELISA kits for a wide range of species.

SMN1 蛋白

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

Recommended SMN1 抗体

Product
Reactivity
Application
Validations
Cat. No.
Quantity
Datasheet
Reactivity Human, Monkey
Application WB, ELISA, IHC, ICC
Validations
  • (1)
  • (5)
Cat. No. ABIN969408
Quantity 100 μL
Datasheet Datasheet
Reactivity Human, Monkey
Application WB, ELISA, IHC, FACS
Validations
  • (1)
  • (4)
Cat. No. ABIN969407
Quantity 100 μL
Datasheet Datasheet
Reactivity Human
Application WB, IHC
Validations
  • (4)
Cat. No. ABIN7270652
Quantity 100 μL
Datasheet Datasheet

Recommended SMN1 ELISA试剂盒

Product
Reactivity
Analytical Method
Validations
Cat. No.
Quantity
Datasheet
Reactivity Human
Analytical Method Quantitative Sandwich ELISA
Validations
  • (1)
Cat. No. ABIN6970496
Quantity 96 tests
Datasheet Datasheet
Reactivity Mouse
Analytical Method Quantitative Sandwich ELISA
Validations
  • (1)
Cat. No. ABIN6970497
Quantity 96 tests
Datasheet Datasheet
Reactivity Human
Analytical Method Quantitative Sandwich ELISA
Validations
Cat. No. ABIN511601
Quantity 96 tests
Datasheet Datasheet

Recommended SMN1 蛋白

Product
Reactivity
Source
Validations
Cat. No.
Quantity
Datasheet
Reactivity Human
Source Wheat germ
Validations
  • (1)
Cat. No. ABIN1320589
Quantity 10 μg
Datasheet Datasheet
Reactivity Human
Source Wheat germ
Validations
  • (1)
Cat. No. ABIN1320585
Quantity 10 μg
Datasheet Datasheet
Reactivity Human
Source Escherichia coli (E. coli)
Validations
Cat. No. ABIN7416892
Quantity 100 μg
Datasheet Datasheet

Latest Publications for our SMN1 Products

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).

Synonyms and alternative names related to 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

Protein level used designations for 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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