Recombinant Human Aconitase 2 Protein (His & GST Tag)
Beta LifeScience
SKU/CAT #: BLPSN-0058
Recombinant Human Aconitase 2 Protein (His & GST Tag)
Beta LifeScience
SKU/CAT #: BLPSN-0058
Collections: Other recombinant proteins, Recombinant proteins
Product Overview
| Tag | His&GST |
| Host Species | Human |
| Accession | Q99798 |
| Synonym | ACONM, ICRD |
| 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. |
| Description | A DNA sequence encoding the human ACO2 (Q99798) (Gln 28-Gln 780) was fused with the N-terminal His-tagged GST tag at the N-terminus. |
| Source | Baculovirus-Insect Cells |
| Predicted N Terminal | Met |
| AA Sequence | Gln 28-Gln 780 |
| Molecular Weight | The recombinant human ACO2/GST chimera consists of 990 a.a. and migrates as an approximately 110 kDa band in SDS-PAGE under reducing conditions as predicted. |
| Purity | >85% as determined by SDS-PAGE |
| Endotoxin | < 1.0 EU per μg of the protein as determined by the LAL method |
| Bioactivity | Please contact us for detailed information |
| Formulation | Lyophilized from sterile 20mM Tris, 500mM NaCl, 10% glycerol, pH 8.0, 0.3mM DTT. |
| Stability | The recombinant proteins are stable for up to 1 year from date of receipt at -70°C. |
| Usage | For Research Use Only |
| Storage | Store the protein under sterile conditions at -20°C to -80°C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles. |
