ACO2
Function
Catalyzes the isomerization of citrate to isocitrate via cis-aconitate.
Involvement in disease
Infantile cerebellar-retinal degeneration
ICRD
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Optic atrophy 9
OPA9
A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Carbohydrate metabolism; tricarboxylic acid cycle; isocitrate from oxaloacetate: step 2/2.
Post-translational modifications
Forms covalent cross-links mediated by transglutaminase TGM2, between a glutamine and the epsilon-amino group of a lysine residue, forming homopolymers and heteropolymers.
Sequence Similarities
Belongs to the aconitase/IPM isomerase family.
Cellular localization
- Mitochondrion
Alternative names
Aconitase, Citrate hydro-lyase, ACO2