SMN2 anticorps

N° du produit ABIN7256164

Détail du produit anti-SMN2 anticorps

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

Reactivité: Humain, Souris, Rat

Hôte: Lapin

Clonalité: Polyclonal

Conjugué: Cet anticorp SMN2 est non-conjugé

Application: Immunohistochemistry (IHC), Immunofluorescence (IF)

Attributs du produit: Polyclonal Antibody

Purification: Affinity purification

Immunogène: Recombinant fusion protein of human SMN2 (NP_059107.1).

Isotype: IgG

Information d'application

Indications d'application: IHC 1:50-1:200 IF 1:50-1:200

Restrictions: For Research Use only

Stockage

Format: Liquid

Concentration: 1 mg/mL

Buffer: PBS with 0.02 % sodium azide, 50 % glycerol, pH 7.3

Agent conservateur: Sodium azide

Précaution d'utilisation: This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.

Stock: -20 °C

Stockage commentaire: Store at -20°C. Avoid freeze / thaw cycles.

Détails sur SMN2

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

Autre désignation: SMN2 (SMN2 Produits)

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

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. 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.

ID gène: 6607

UniProt: Q16637

Pathways: Ribonucleoprotein Complex Subunit Organization