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

rs117078955 in ACO2 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs727563 in ACO2 gene and Crohn Disease PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs786200924 in ACO2 gene and INFANTILE CEREBELLAR-RETINAL DEGENERATION PMID 25351951 2014 Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.

PMID 22405087 2012 Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

rs150129663 in ACO2 gene and Movement Disorders PMID 25351951 2014 Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.

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 22405087 2012 Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

rs141772938 in ACO2 gene and OPTIC ATROPHY 9 PMID 25351951 2014 Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.

rs9611602 in ACO2 gene and Respiratory Tract Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.