89-7808-35 ［取扱停止］Recombinant Mouse ACO2/Aconitase 2 Protein (His & GST Tag) 20ug PKSM040388
[Elabscience]
特徴
- 背景：A homozygous missense mutation was identified in the ACO2 gene (c.124T>G p.Phe414Val) that segregated with HSP complicated by intellectual disability and microcephaly. Lymphoblastoid cell lines of homozygous carrier patients revealed significantly decreased activity of the mitochondrial aconitase enzyme and defective mitochondrial respiration. ACO2 encodes mitochondrial aconitase, an essential enzyme in the Krebs cycle. Recessive mutations in this gene have been previously associated with cerebellar ataxia. We found homozygous or compound heterozygous missense and frameshift mutations in the gene encoding mitochondrial aconitase (ACO2), a tricarboxylic acid cycle enzyme, catalysing interconversion of citrate into isocitrate. Unlike wild type ACO2, all mutant ACO2 proteins failed to complement the respiratory growth of a yeast aco1-deletion strain. The study shows that autosomal recessive ACO2 mutations can cause either isolated or syndromic optic neuropathy. This observation identifies ACO2 as the second gene responsible for non-syndromic autosomal recessive optic neuropathies and provides evidence for a genetic overlap between isolated and syndromic forms, giving further support to the view that optic atrophy is a hallmark of defective mitochondrial energy supply.
仕様
- サイズ：20ug
- 種由来：Mouse
- 発現宿主：Baculovirus-Insect Cells
- 純度：> 90 % as determined by SDS-PAGE
- エンドトキシン濃度：< 1.0 EU per μg of the protein as determined by the LAL method.
- アクセッションＮｏ．：Q99KI0
- タグ種類：N-His-GST
- アミノ酸配列：Gln 28-Gln 780
- 遺伝子構造：A DNA sequence encoding the mouse ACO2 (Q99KI0) (Gln 28-Gln 780) was fused with the N-terminal polyhistidine-tagged GST tag at the N-terminus.
- 別名（遺伝子名）：Aco-2;Aco3;D10Wsu183e
- 分子量：110 kDa
- 組成：Lyophilized from sterile 50mM Tris, 100mM NaCl, 10% gly, 0.5mM GSH, pH 8.0
- 保存条件：Lyophilized proteins are stable for up to 12 months when stored at -20 to -80°C. Reconstituted protein solution can be stored at 4-8℃ for 2-7 days. Aliquots of reconstituted samples are stable at < -20℃ for 3 months.
- メーカーマニュアルリンク：https://www.elabscience.com/viewpdf-38557-Elabscience-PKSM040388.pdf
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商品のバリエーション （サイズ違い・スペック違い・オプション品など）
| 商品イメージ | アズワン品番 商品名 |
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89-7808-36
Recombinant Mouse ACO2/Aconitase 2 Protein (His & GST Tag) 100ug
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89-7808-35
Recombinant Mouse ACO2/Aconitase 2 Protein (His & GST Tag) 20ug
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