ACO2 Protein (GST tag,His tag)

N° du produit ABIN7320070

Détail du produit

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

Type de proteíne: Recombinant

Origine: Souris

Source: Baculovirus infected Insect Cells

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

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.

Pureté: > 90 % as determined by SDS-PAGE

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

Information d'application

Restrictions: For Research Use only

Stockage

Format: Lyophilized

Reconstitution: 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

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.

Détail du antigène

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

Autre désignation: ACO2/Aconitase 2 (ACO2 Produits)

Synonymes: DDBDRAFT_0206187 Protein, DDBDRAFT_0230168 Protein, DDB_0206187 Protein, DDB_0230168 Protein, aconitase 2 Protein, F10M23.310 Protein, F10M23_310 Protein, ACONM Protein, ICRD Protein, Aco-2 Protein, Aco3 Protein, D10Wsu183e Protein, cb1017 Protein, wu:fa10e03 Protein, wu:fb69g04 Protein, wu:fc20c11 Protein, aconitase 2 Protein, aconitase 2 S homeolog Protein, aconitate hydratase, mitochondrial Protein, aconitase, mitochondrial Protein, mitochondrial aconitate hydratase Protein, aconitase 2, mitochondrial Protein, Probable aconitate hydratase, mitochondrial Protein, ACO2 Protein, aco2.S Protein, Bm1_07420 Protein, aco2 Protein, ach1 Protein, Aco2 Protein, aco-2 Protein

Sujet:

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

Poids moléculaire: 110 kDa

UniProt: Q99KI0