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MGP000031

UniProt Annotations

Entry Information
Gene Nameaconitase 2, mitochondrial
Protein EntryACON_HUMAN
UniProt IDQ99798
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityCitrate = isocitrate.
CofactorName=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Evidence={ECO:0000250}; Note=Binds 1 [4Fe-4S] cluster per subunit. Binding of a [3Fe-4S] cluster leads to an inactive enzyme. {ECO:0000250};
DiseaseInfantile cerebellar-retinal degeneration (ICRD) [MIM:614559]: A severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. Affected individuals show profound psychomotor retardation, with only some achieving rolling, sitting, or recognition of family. Brain MRI shows progressive cerebral and cerebellar degeneration. {ECO:0000269|PubMed:22405087}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the isomerization of citrate to isocitrate via cis-aconitate. {ECO:0000250}.
PathwayCarbohydrate metabolism; tricarboxylic acid cycle; isocitrate from oxaloacetate: step 2/2.
SimilarityBelongs to the aconitase/IPM isomerase family. {ECO:0000305}.
Subcellular LocationMitochondrion {ECO:0000250}.
SubunitMonomer. {ECO:0000250}.
Web ResourceName=Wikipedia; Note=Aconitase entry; URL="http://en.wikipedia.org/wiki/Aconitase";
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