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

Specifications

Catalog number

PKSM040388

Size / count

100 µg

Dry ice

No

Hazardous

No

Discontinued

No

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.

Synonyms

Aco-2; Aco3; D10Wsu183e

UniProt

Q99KI0

Accession Number

Q99KI0

Expression System

Baculovirus-Insect Cells

Tag

N-His-GST

Sequence

Gln 28-Gln 780

Endotoxin

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

Purity

> 90 % as determined by reducing SDS-PAGE.

Bioactivity

Not validated for activity

Reconstitution

Please refer to the printed manual for detailed information.

Shipping Conditions

This product is provided as lyophilized powder which is shipped with ice packs.

Storage Conditions

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.

Calculated Molecular Weight

110 kDa

Observed Molecular Weight

100 kDa

Species

Mouse