SMN1 / SMN2 (Transcript Variant D) protein (Myc-DYKDDDDK Tag)

N° du produit ABIN2732251

Détail du produit

Antigène: SMN1 / SMN2

Type de proteíne: Recombinant

Attributs du protein: Transcript Variant D

Origine: Humain

Source: HEK-293 Cells

Purification/Conjugué: Myc-DYKDDDDK Tag

Application: Antibody Production (AbP), Standard (STD)

Attributs du produit:

• Recombinant human SMN1 / SMN2 (transcript variant d) protein expressed in HEK293 cells.
• Produced with end-sequenced ORF clone

Pureté: > 80 % as determined by SDS-PAGE and Coomassie blue staining

Information d'application

Indications d'application: Recombinant human proteins can be used for:
Native antigens for optimized antibody production
Positive controls in ELISA and other antibody assays

Commentaires:

The tag is located at the C-terminal.

Restrictions: For Research Use only

Stockage

Concentration: 50 μg/mL

Buffer: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10 % glycerol.

Stock: -80 °C

Stockage commentaire: Store at -80°C. Thaw on ice, aliquot to individual single-use tubes, and then re-freeze immediately. Only 2-3 freeze thaw cycles are recommended.

Référence

Groen, Fumoto, Blokhuis, Engelen-Lee, Zhou, van den Heuvel, Koppers, van Diggelen, van Heest, Demmers, Kirby, Shaw, Aronica, Spliet, Veldink, van den Berg, Pasterkamp: "ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN." dans: Human molecular genetics, Vol. 22, Issue 18, pp. 3690-704, (2013) (PubMed).

Détail du antigène

Antigène: SMN1 / SMN2

Autre désignation: Smn1,smn2

Sujet: 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.

Poids moléculaire: 31.7 kDa

NCBI Accession: NP_000335