ACO2 Chromosome 22
Aconitase 2
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Associated Conditions (19)
Neurodegeneration
Progressive microcephaly
Global developmental delay
Brain atrophy
Central hypoventilation
Optic atrophy 9
Acute intermittent porphyria
Inborn genetic diseases
ACO2-related disorder
Infantile cerebellar-retinal degeneration
OPTIC ATROPHY 9
AUTOSOMAL RECESSIVE
Retinal dystrophy
Optic atrophy
Malignant tumor of esophagus
Isolated macular dystrophy
Mitochondrial disease
Ovarian serous cystadenocarcinoma
Optic neuropathy
Key Variants
RS1057518832
Conflicting classifications of pathogenicity
Neurodegeneration, Progressive microcephaly, Global developmental delay
Health Risk
RS115203053
Conflicting classifications of pathogenicity
Inborn genetic diseases, ACO2-related disorder, Inborn genetic diseases
Health Risk
RS141772938
Conflicting classifications of pathogenicity
Optic atrophy 9, Infantile cerebellar-retinal degeneration, OPTIC ATROPHY 9
Health Risk
RS150129663
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1569026431
Conflicting classifications of pathogenicity
Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration
Health Risk
RS2006715
Conflicting classifications of pathogenicity
Optic atrophy 9, Infantile cerebellar-retinal degeneration, ACO2-related disorder
Health Risk
RS202144797
Conflicting classifications of pathogenicity
Health Risk
RS2066638829
Conflicting classifications of pathogenicity
Optic atrophy 9, Optic atrophy 9
Health Risk
RS2146127377
Conflicting classifications of pathogenicity
Isolated macular dystrophy, Infantile cerebellar-retinal degeneration, Optic atrophy 9
Health Risk
RS375761361
Conflicting classifications of pathogenicity
Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration
Health Risk
RS527722269
Conflicting classifications of pathogenicity
Health Risk
RS540169523
Conflicting classifications of pathogenicity
Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration
Health Risk
All Variants (90)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2066570950 | Health Risk | Pathogenic | — |
| RS2066594367 | Health Risk | Pathogenic | Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration |
| RS2066653512 | Health Risk | Pathogenic | Optic atrophy 9, Optic atrophy 9 |
| RS2146067632 | Health Risk | Pathogenic | — |
| RS2146120226 | Health Risk | Pathogenic | — |
| RS2146120264 | Health Risk | Pathogenic | — |
| RS2146128464 | Health Risk | Pathogenic | — |
| RS2146128577 | Health Risk | Pathogenic | — |
| RS2146130989 | Health Risk | Pathogenic | — |
| RS2146131000 | Health Risk | Pathogenic | — |
| RS2146136449 | Health Risk | Pathogenic | — |
| RS2146139034 | Health Risk | Pathogenic | Optic atrophy 9, Optic atrophy 9 |
| RS2146139087 | Health Risk | Pathogenic | — |
| RS2146139092 | Health Risk | Pathogenic | — |
| RS2146144344 | Health Risk | Pathogenic | — |
| RS2146149676 | Health Risk | Pathogenic | — |
| RS2518210953 | Health Risk | Pathogenic | — |
| RS2518216846 | Health Risk | Pathogenic | — |
| RS2518222390 | Health Risk | Pathogenic | — |
| RS2518222791 | Health Risk | Pathogenic | — |
| RS2518224688 | Health Risk | Pathogenic | Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration |
| RS2518229756 | Health Risk | Pathogenic | — |
| RS2518229785 | Health Risk | Pathogenic | Optic atrophy 9, Optic atrophy 9 |
| RS2518230292 | Health Risk | Pathogenic | — |
| RS2518236280 | Health Risk | Pathogenic | — |
| RS2518236588 | Health Risk | Pathogenic | — |
| RS2518236599 | Health Risk | Pathogenic | — |
| RS2518240864 | Health Risk | Pathogenic | — |
| RS368044961 | Health Risk | Pathogenic | Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration |
| RS387907389 | Health Risk | Pathogenic | — |
| RS751460831 | Health Risk | Pathogenic | ACO2-related disorder, ACO2-related disorder |
| RS786200924 | Health Risk | Pathogenic | Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration |
| RS786204828 | Health Risk | Pathogenic | Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration |
| RS786204829 | Health Risk | Pathogenic | Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration |
| RS786204830 | Health Risk | Pathogenic | Infantile cerebellar-retinal degeneration, Optic atrophy, Infantile cerebellar-retinal degeneration |
| RS1188048436 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1601927180 | Health Risk | Pathogenic/Likely pathogenic | Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration |
| RS2066512609 | Health Risk | Pathogenic/Likely pathogenic | Optic neuropathy, Optic neuropathy |
| RS2518227349 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS377518755 | Health Risk | Pathogenic/Likely pathogenic | — |