ACO2 Protein (His-GST)

Catalog No. ABIN7320070

Recombinant ACO2 protein expressed in Baculovirus infected Insect Cells.

Quick Overview for ACO2 Protein (His-GST) (ABIN7320070)

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

Protein Type: Recombinant

Origin: Mouse

Source: Baculovirus infected Insect Cells

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

Product Details

Purification tag / Conjugate: This ACO2 protein is labelled with His-GST.

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

Sequence: Gln 28-Gln 780

Characteristics: 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.

Sterility: 0.2 μm filtered

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

Biological Activity Comment: Not validated for activity

Application Details

Restrictions: For Research Use only

Handling

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.

Storage: 4 °C,-20 °C,-80 °C

Storage Comment: 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.

Expiry Date: 12 months

Target Details

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

Alternative Name: ACO2/Aconitase 2

Background: 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.

Molecular Weight:

Calculated MW: 110 kDa

Observed MW: 100 kDa

UniProt: Q99KI0