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SMN2 产品

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

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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. 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].

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Featured SMN2 Categories

SMN2 抗体

High quality antibodies with extensive validation data.

SMN2 ELISA试剂盒

Reliable ELISA kits for a wide range of species.

SMN2 蛋白

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

Recommended SMN2 抗体

Product
Reactivity
Application
Validations
Cat. No.
Quantity
Datasheet
Reactivity Human
Application WB, IF, ELISA, IHC (p)
Validations
  • (6)
Cat. No. ABIN948481
Quantity 100 μg
Datasheet Datasheet
Reactivity Human
Application WB, IHC, IP, ICC
Validations
  • (5)
Cat. No. ABIN7435538
Quantity 100 μL
Datasheet Datasheet
Reactivity Human
Application WB, IF, IP
Validations
  • (4)
Cat. No. ABIN6148134
Quantity 100 μL
Datasheet Datasheet

Recommended SMN2 ELISA试剂盒

Product
Reactivity
Analytical Method
Validations
Cat. No.
Quantity
Datasheet
Reactivity Human
Analytical Method Quantitative Sandwich ELISA
Validations
  • (1)
Cat. No. ABIN6959786
Quantity 96 tests
Datasheet Datasheet
Reactivity Human
Analytical Method Quantitative Sandwich ELISA
Validations
Cat. No. ABIN5659041
Quantity 96 tests
Datasheet Datasheet

Recommended SMN2 蛋白

Product
Reactivity
Source
Validations
Cat. No.
Quantity
Datasheet
Reactivity Human
Source Wheat germ
Validations
  • (1)
  • (1)
Cat. No. ABIN1320680
Quantity 10 μg
Datasheet Datasheet
Reactivity Human
Source Wheat germ
Validations
  • (1)
Cat. No. ABIN1320682
Quantity 10 μg
Datasheet Datasheet
Reactivity Human
Source Escherichia coli (E. coli)
Validations
Cat. No. ABIN7397549
Quantity 100 μg
Datasheet Datasheet

Latest Publications for our SMN2 Products

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).

Synonyms and alternative names related to SMN2

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

Protein level used designations for SMN2

  • component of gems 1
  • gemin-1
  • survival motor neuron protein
  • tudor domain containing 16B
  • gemin 1
  • survival of motor neuron 2, centromeric L homeolog
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