SMN2 antibody

Catalog No. ABIN7256164

Product Details anti-SMN2 Antibody

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

Reactivity: Human, Mouse, Rat

Host: Rabbit

Clonality: Polyclonal

Conjugate: This SMN2 antibody is un-conjugated

Application: Immunohistochemistry (IHC), Immunofluorescence (IF)

Characteristics: Polyclonal Antibody

Purification: Affinity purification

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

Isotype: IgG

Application Details

Application Notes: IHC 1:50-1:200 IF 1:50-1:200

Restrictions: For Research Use only

Handling

Format: Liquid

Concentration: 1 mg/mL

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

Preservative: Sodium azide

Precaution of Use: This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.

Storage: -20 °C

Storage Comment: Store at -20°C. Avoid freeze / thaw cycles.

Target Details for SMN2

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

Alternative Name: SMN2 (SMN2 Products)

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

Background: 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.

Gene ID: 6607

UniProt: Q16637

Pathways: Ribonucleoprotein Complex Subunit Organization