Recombinant Mouse ACO2/Aconitase 2 Protein (His & GST Tag)
Size: 100μg
Storage: Generally, lyophilized proteins are stable for up to 12 months when stored at -20 to -80℃. Reconstituted protein solution can be stored at 4-8℃ for 2-7 days. Aliquots of reconstituted samples are stable at < -20℃ for 3 months.
Shipping: This product is provided as lyophilized powder which is shipped with ice packs.
Exp date: 12 months
Category ID_II: Recombinant Proteins
Category ID_III: Others
Abbreviation:
Target Synonym: Aco-2;Aco3;D10Wsu183e
Research Areas:
Conjugation:
Target Species: Mouse
Expression Host: Baculovirus-Insect Cells
Application:
Fusion tag: N-His-GST
UNIProt ID: Q99KI0
Accession: Q99KI0
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.
Concentration:
Activity: Not validated for activity
Sequence: Gln 28-Gln 780
Purity: > 90 % as determined by reducing SDS-PAGE.
Formulation: Lyophilized from sterile 50mM Tris, 100mM NaCl, 10% glycerol, 0.5mM GSH, pH 8.0
Normally 5% - 8% trehalose, mannitol and 0.01% Tween 80 are added as protectants before lyophilization.
Please refer to the specific buffer information in the printed manual.
Reconstitution: Please refer to the printed manual for detailed information.
Endotoxin: < 1.0 EU per μg of the protein as determined by the LAL method.
Calculated MW: 110 kDa
ObservedMW: 100 kDa
Product Information
Product Information
Shipping & Returns
Shipping & Returns
Recombinant Mouse ACO2/Aconitase 2 Protein (His & GST Tag)
Recombinant Mouse ACO2/Aconitase 2 Protein (His & GST Tag)
Size: 100μg
Storage: Generally, lyophilized proteins are stable for up to 12 months when stored at -20 to -80℃. Reconstituted protein solution can be stored at 4-8℃ for 2-7 days. Aliquots of reconstituted samples are stable at < -20℃ for 3 months.
Shipping: This product is provided as lyophilized powder which is shipped with ice packs.
Exp date: 12 months
Category ID_II: Recombinant Proteins
Category ID_III: Others
Abbreviation:
Target Synonym: Aco-2;Aco3;D10Wsu183e
Research Areas:
Conjugation:
Target Species: Mouse
Expression Host: Baculovirus-Insect Cells
Application:
Fusion tag: N-His-GST
UNIProt ID: Q99KI0
Accession: Q99KI0
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.
Concentration:
Activity: Not validated for activity
Sequence: Gln 28-Gln 780
Purity: > 90 % as determined by reducing SDS-PAGE.
Formulation: Lyophilized from sterile 50mM Tris, 100mM NaCl, 10% glycerol, 0.5mM GSH, pH 8.0
Normally 5% - 8% trehalose, mannitol and 0.01% Tween 80 are added as protectants before lyophilization.
Please refer to the specific buffer information in the printed manual.
Reconstitution: Please refer to the printed manual for detailed information.
Endotoxin: < 1.0 EU per μg of the protein as determined by the LAL method.
Calculated MW: 110 kDa
ObservedMW: 100 kDa
Original: $13,341,537.73
-70%$13,341,537.73
$4,002,461.32Product Information
Product Information
Shipping & Returns
Shipping & Returns
Description
Size: 100μg
Storage: Generally, lyophilized proteins are stable for up to 12 months when stored at -20 to -80℃. Reconstituted protein solution can be stored at 4-8℃ for 2-7 days. Aliquots of reconstituted samples are stable at < -20℃ for 3 months.
Shipping: This product is provided as lyophilized powder which is shipped with ice packs.
Exp date: 12 months
Category ID_II: Recombinant Proteins
Category ID_III: Others
Abbreviation:
Target Synonym: Aco-2;Aco3;D10Wsu183e
Research Areas:
Conjugation:
Target Species: Mouse
Expression Host: Baculovirus-Insect Cells
Application:
Fusion tag: N-His-GST
UNIProt ID: Q99KI0
Accession: Q99KI0
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.
Concentration:
Activity: Not validated for activity
Sequence: Gln 28-Gln 780
Purity: > 90 % as determined by reducing SDS-PAGE.
Formulation: Lyophilized from sterile 50mM Tris, 100mM NaCl, 10% glycerol, 0.5mM GSH, pH 8.0
Normally 5% - 8% trehalose, mannitol and 0.01% Tween 80 are added as protectants before lyophilization.
Please refer to the specific buffer information in the printed manual.
Reconstitution: Please refer to the printed manual for detailed information.
Endotoxin: < 1.0 EU per μg of the protein as determined by the LAL method.
Calculated MW: 110 kDa
ObservedMW: 100 kDa
