Gene: ACO2
Alternate names for this Gene: ACONM|HEL-S-284|ICRD|OCA8|OPA9
Gene Summary: The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification.
Gene is located in Chromosome: 22
Location in Chromosome : 22q13.2
Description of this Gene: aconitase 2
Type of Gene: protein-coding
Gene: POLR3H
Alternate names for this Gene: C25|RPC22.9|RPC8
Gene Summary:
Gene is located in Chromosome: 22
Location in Chromosome : 22q13.2
Description of this Gene: RNA polymerase III subunit H
Type of Gene: protein-coding
rs1555890974 in
ACO2;POLR3H gene and
Movement Disorders
PMID 22405087 2012 Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
PMID 26992325 2016 Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency.
PMID 28545339 2017 Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant.
PMID 25351951 2014 Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.