ACO2 Protein (His-GST)

Produktnummer ABIN7320070

Recombinant ACO2-Protein exprimiert in Baculovirus infected Insect Cells.

Kurzübersicht für ACO2 Protein (His-GST) (ABIN7320070)

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

Protein-Typ: Recombinant

Spezies: Maus

Quelle: Baculovirus infected Insect Cells

Reinheit: > 90 % as determined by reducing SDS-PAGE.

Produktdetails

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

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.

Sterilität: 0.2 μm filtered

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

Biological Activity Comment: Not validated for activity

Anwendungsinformationen

Beschränkungen: Nur für Forschungszwecke einsetzbar

Handhabung

Format: Lyophilized

Buffer: Lyophilized from sterile 50 mM Tris, 100 mM NaCl, 10 % glycerol, 0.5 mM GSH, pH 8.0
Normally 5 % - 8 % trehalose, mannitol and 0.01 % Tween 80 are added as protectants before lyophilization.

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.

Haltbarkeit: 12 months

Antigendetails

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

Andere Bezeichnung: ACO2/Aconitase 2

Hintergrund: Aco-2,Aco3,D10Wsu183e,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.

Molekulargewicht:

Calculated MW: 110 kDa

Observed MW: 100 kDa

UniProt: Q99KI0