ACO2 Protein (His-GST)

N° du produit ABIN7320070

Protéine Recombinant ACO2 exprimée dans Baculovirus infected Insect Cells.

Aperçu rapide pour ACO2 Protein (His-GST) (ABIN7320070)

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

Type de proteíne: Recombinant

Origine: Souris

Source: Baculovirus infected Insect Cells

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

Détail du produit

Purification/Conjugué: Cette ACO2 protéine est marqué à la His-GST.

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

Séquence: Gln 28-Gln 780

Attributs du produit: 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.

Stérilité: 0.2 μm filtered

niveau d'endotoxine: < 1.0 EU per μg of the protein as determined by the LAL method.

Biological Activity Comment: Not validated for activity

Information d'application

Restrictions: For Research Use only

Stockage

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.

Stock: 4 °C,-20 °C,-80 °C

Stockage commentaire: 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.

Date de péremption: 12 months

Détail du antigène

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

Autre désignation: ACO2/Aconitase 2

Sujet: 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.

Poids moléculaire:

Calculated MW: 110 kDa

Observed MW: 100 kDa

UniProt: Q99KI0