Alternative Description: Component of gems 1
Catalogue Number: IQ259
Also known as: SMN (Gemin1); BCD 541; Gemin 1; SMA 1; SMA 2; SMA 3; SMA 4; SMN 1; SMNT; T BCD541;
Quantity: 50μl (1.8mg/ml)
Price: €265.00Price excludes VAT and Delivery.
Clone: 2B1;
Host/Isotype: Mouse IgG1;
Immunogen: Purified recombinant His6 tagged-SMN protein (human)
Myeloma/fusion partners: A/J & Sp2/0 cell line;
Specificity: Human SMN (survival of motor neurone). Detects a band of approximately 42kDa. Cross reacts with mouse & xenopus
Purification: Protein A;
Format: Purified antibody (from supernatant) containing PBS + 0.1% sodium azide;
Applications: E; IF; IP; WB;
View Applications KeyDilutions: Optimal antibody dilution should be determined by titration, however as a guideline try at 1:500 for western blot
Relevance: 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. 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 GEMIN 4, 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 are produced by this gene.
References: (click to view full details)
A novel nuclear structure containing the survival of motor neurons protein. - Liu, Q. et al ( EMBO,1996 Vol.15 no.14)
Regular Exercise Prolongs Survival in a Type 2 Spinal Muscular Atrophy Model Mouse - Clément Grondard et al ( The Journal of Neuroscience,August 17, 2005)
Research areas: Cell Division; Spindle;
Storage: Store at +4°C for one month, or in small aliquots at -20°C for longer
Health and safety: Products that contain sodium azide (a poisonous and hazardous substance) should be handled only by trained personnel
Protocols: Immunofluorescence protocol - Formaldehyde fixation; Immunofluorescence protocol - Methanol/acetone fixation; Western Blotting Protocol;
