MitoProteome Database

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MT000014

UniProt Annotations

Entry Information

Gene Name	aconitase 2, mitochondrial
Protein Entry	ACON_HUMAN
UniProt ID	Q99798
Species	Human

Comments

Comment type	Description
Catalytic Activity	Citrate = isocitrate.
Cofactor	Name=[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};
Disease	Infantile 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.
Function	Catalyzes the isomerization of citrate to isocitrate via cis-aconitate. {ECO:0000250}.
Pathway	Carbohydrate metabolism; tricarboxylic acid cycle; isocitrate from oxaloacetate: step 2/2.
Similarity	Belongs to the aconitase/IPM isomerase family. {ECO:0000305}.
Subcellular Location	Mitochondrion {ECO:0000250}.
Subunit	Monomer. {ECO:0000250}.
Web Resource	Name=Wikipedia; Note=Aconitase entry; URL="http://en.wikipedia.org/wiki/Aconitase";