{"product_id":"recombinant-mouse-aco2-aconitase-2-protein-his-gst-tag-pksm040388","title":"Recombinant Mouse ACO2\/Aconitase 2 Protein (His \u0026 GST Tag) - PKSM040388","description":"\u003cp\u003eRecombinant Mouse ACO2\/Aconitase 2 Protein (His \u0026amp; GST Tag)\u003c\/p\u003e\n\n\u003cp\u003eSize: 100μg\u003c\/p\u003e\n\n\u003cp\u003eCatalogue Number: PKSM040388-100\u003c\/p\u003e\n\n\u003cp\u003eCitations, Manuals and MSDS Available upon request.\u003c\/p\u003e\n\n\u003cp\u003eAbbreviation: ACO2, Aconitase 2\u003c\/p\u003e\n\n\u003cp\u003eTarget Synonym: Aco-2, Aco3, D10Wsu183e\u003c\/p\u003e\n\n\u003cp\u003eUNIProt ID: Q99KI0\u003c\/p\u003e\n\n\u003cp\u003eTarget Species: Mouse\u003c\/p\u003e\n\n\u003cp\u003eExpression Host: Baculovirus-Insect Cells\u003c\/p\u003e\n\n\u003cp\u003eFusion Tag: N-His-GST\u003c\/p\u003e\n\n\u003cp\u003eAccession: Q99KI0\u003c\/p\u003e\n\n\u003cp\u003eBackground: A homozygous missense mutation was identified in the ACO2 gene (c.124T\u0026gt;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.\u003c\/p\u003e\n\n\u003cp\u003eSequence: Gln 28-Gln 780\u003c\/p\u003e\n\n\u003cp\u003ePurity: \u0026gt; 90 % as determined by reducing SDS-PAGE.\u003c\/p\u003e\n\n\u003cp\u003eFormulation: Lyophilized from sterile 50mM Tris, 100mM NaCl, 10% glycerol, 0.5mM GSH, pH 8.0\u003cbr\u003e\nNormally 5 % - 8 % trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization.\u003cbr\u003e\nPlease refer to the specific buffer information in the printed manual.\u003c\/p\u003e\n\n\u003cp\u003eReconstitution: Please refer to the printed manual for detailed information.\u003c\/p\u003e\n\n\u003cp\u003eEndotoxin: \u0026lt; 1.0 EU per μg of the protein as determined by the LAL method.\u003c\/p\u003e\n\n\u003cp\u003eCalculated MW: 110 kDa\u003c\/p\u003e\n\n\u003cp\u003eObserved MW: 100 kDa\u003c\/p\u003e\n\n\u003cp\u003eStorage: Generally, lyophilized proteins are stable for up to 12 months when stored at -20 to -80℃. Reconstituted protein solution can be stored at 4-8℃ for 2-7 days. Aliquots of reconstituted samples are stable at \u0026lt; -20℃ for 3 months.\u003c\/p\u003e\n\n\u003cp\u003eShipping: This product is provided as lyophilized powder which is shipped with ice packs.\u003c\/p\u003e\n\n\u003cp\u003eResearch Use Only\u003c\/p\u003e","brand":"Elabscience","offers":[{"title":"100μg","offer_id":43154992464051,"sku":"PKSM040388-100","price":1197.0,"currency_code":"CAD","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0305\/9482\/6376\/products\/logo_new_1ca718b3-5d95-4e83-9f27-6664103fcd45.png?v=1710436034","url":"https:\/\/afsbio.com\/products\/recombinant-mouse-aco2-aconitase-2-protein-his-gst-tag-pksm040388","provider":"AFSBio Inc.","version":"1.0","type":"link"}