ACO2 Protein (GST tag,His tag)

Produktnummer ABIN7320070

Produktdetails

Target: ACO2 (Aconitase 2, Mitochondrial (ACO2))

Protein-Typ: Recombinant

Spezies: Maus

Quelle: Baculovirus infected Insect Cells

Aufreinigungstag / Konjugat: Dieses ACO2 Protein ist gelabelt mit GST tag,His tag.

Verwendungszweck: Recombinant Mouse ACO2/Aconitase 2 Protein (His & GST Tag)

Sequenz: Gln 28-Gln 780

Produktmerkmale: 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.

Reinheit: > 90 % as determined by SDS-PAGE

Endotoxin-Niveau: < 1.0 EU per μg of the protein as determined by the LAL method.

Anwendungsinformationen

Beschränkungen: Nur für Forschungszwecke einsetzbar

Handhabung

Format: Lyophilized

Rekonstitution: Please refer to the printed manual for detailed information.

Buffer: Lyophilized from sterile 50 mM Tris, 100 mM NaCl, 10 % glycerol, 0.5 mM GSH, pH 8.0

Lagerung: 4 °C,-20 °C,-80 °C

Informationen zur Lagerung: Generally, 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°C for 2-7 days. Aliquots of reconstituted samples are stable at < -20°C for 3 months.

Antigendetails

Target: ACO2 (Aconitase 2, Mitochondrial (ACO2))

Andere Bezeichnung: ACO2/Aconitase 2 (ACO2 Produkte)

Hintergrund:

Background: 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.

Synonym: Aco-2,Aco3,D10Wsu183e

Molekulargewicht: 110 kDa

UniProt: Q99KI0