SAB1409692

Anti-SMN2 antibody produced in mouse

purified immunoglobulin, buffered aqueous solution

• 別名: BCD541, C-BCD541, FLJ76644, MGC20996, MGC5208, SMNC
• UNSPSCコード: 12352203
• NACRES: NA.41

特性

• 由来生物: mouse
• 結合体: unconjugated
• 抗体製品の状態: purified immunoglobulin
• 抗体製品タイプ: primary antibodies
• クローン: polyclonal
• 形状: buffered aqueous solution
• 分子量: antigen 32.34 kDa
• 化学種の反応性: human
• テクニック: western blot: 1 μg/mL
• NCBIアクセッション番号: DQ894734.2
• 輸送温度: dry ice
• 保管温度: −20°C
• ターゲットの翻訳後修飾: unmodified
• 遺伝子情報: human ... SMN2(6607)

詳細

詳細

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. (provided by RefSeq)

免疫原

SMN2 (ABM85660.1, 1 a.a. ~ 294 a.a) full-length human protein.

Sequence
MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDICETSGKPKTTPKRKPAKKNKSQKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKRETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENENESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPMPGPRLGPGKPGLKFNGPPPPPPPPPPHLLSCWLPPFPSGPPIIPPPPPICPDSLDDADALGSMLISWYMSGYHTGYYMGFRQNQKEGRCSHSLN

物理的形状

無色透明のPBS溶液、pH 7.4

安全性情報

• 保管分類コード: 10 - Combustible liquids
• WGK: WGK 3
• 引火点(°F): Not applicable
• 引火点(℃): Not applicable