Abnova™ Human SMN2 Full-length ORF (AAH00908, 1 a.a. - 282 a.a.) Recombinant Protein with GST-tag at N-terminal

Catalog No.	Quantity
89-962-585	10 ug
89-962-586	25 ug

Catalog No. 89-962-585 Supplier Abnova™ Supplier No. H00006607P02S

Description

Used for AP, Array, ELISA, WB-Re

This gene is part of a 500kb inverted duplication on chromosome 5q13 which contains at least 4 genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of 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 telomeric copy are associated with spinal muscular atrophy, the centromeric copy do not lead to disease. This gene may be a modifier of disease caused by mutation in telomeric copy. The critical seq difference between two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. 9 exons of both 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 cytoplasm and nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems found near coiled bodies containing high concentrations of 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.

Sequence: MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDICETSGKPKTTPKRKPAKKNKSQKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKRETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENENESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPMPGPRLGPGKPGLKFNGPPPPPPPPPPHLLSCWLPPFPSGPPIIPPPPPICPDSLDDADALGSMLISWYMSGYHTGYYMEMLA

Specifications

• Accession Number: AAH00908
• For Use With (Application): Antibody Production, Protein Array, ELISA, Western Blot
• Formulation: 50mM Tris-HCI, 10mM reduced Glutathione, pH=8.0 in the elution buffer.
• Gene ID (Entrez): 6607
• Molecular Weight (g/mol): 56.76kDa
• Name: SMN2 (Human) Recombinant Protein (P02)
• Purification Method: Glutathione Sepharose 4 Fast Flow
• Quality Control Testing: 12.5% SDS-PAGE Stained with Coomassie Blue.
• Quantity: 10 ug
• Immunogen: MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDICETSGKPKTTPKRKPAKKNKSQKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKRETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENENESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPMPGPRLGPGKPGLKFNGPPPPPPPPPPHLLSCWLPPFPSGPPIIPPPPPICPDSLDDADALGSMLISWYMSGYHTGYYMEMLA
• Storage Requirements: Store at -80°C. Aliquot to avoid repeated freezing and thawing.
• Regulatory Status: RUO
• Gene Alias: BCD541/C-BCD541/FLJ76644/MGC20996/MGC5208/SMNC
• Common Name: SMN2
• Gene Symbol: SMN2
• Species: Wheat Germ (in vitro)
• Recombinant: Recombinant
• Protein Tag: GST
• Expression System: wheat germ expression system
• Form: Liquid