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 b... See more...

Aliases for ACO2 Gene

Aliases for ACO2 Gene

  • Aconitase 2 2 3 5
  • Aconitate Hydratase, Mitochondrial 2 3 4
  • Aconitase 2, Mitochondrial 2 3
  • Mitochondrial Aconitase 2 3
  • Citrate Hydro-Lyase 3 4
  • EC 4 50
  • ACONM 2 3
  • Epididymis Secretory Sperm Binding Protein Li 284 3
  • HEL-S-284 3
  • Aconitase 4
  • EC 4.2.1 50
  • ICRD 3
  • OCA8 3
  • OPA9 3
  • ACO2 5

External Ids for ACO2 Gene

Previous GeneCards Identifiers for ACO2 Gene

  • GC22P038479
  • GC22P040108
  • GC22P040189
  • GC22P041865
  • GC22P024830
  • GC22P041469

Summaries for ACO2 Gene

Entrez Gene Summary for ACO2 Gene

  • 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]

GeneCards Summary for ACO2 Gene

ACO2 (Aconitase 2) is a Protein Coding gene. Diseases associated with ACO2 include Infantile Cerebellar-Retinal Degeneration and Optic Atrophy 9. Among its related pathways are Mitochondrial protein import and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include iron ion binding and aconitate hydratase activity. An important paralog of this gene is ACO1.

UniProtKB/Swiss-Prot Summary for ACO2 Gene

  • Catalyzes the isomerization of citrate to isocitrate via cis-aconitate.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACO2 Gene

Genomics for ACO2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACO2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J041444 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 -1.4 -1378 6.5 BCLAF1 SP1 ZNF207 MYC IKZF1 NCOR1 ZNF600 SIX5 SSRP1 JUND TOB2 ACO2 HSALNG0135639 LOC105373043 lnc-ACO2-1 EP300 L3MBTL2 PHF5A XRCC6 ZC3H7B
GH22J041467 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.4 +23.1 23132 7.3 SP1 ZNF207 MYC SIX5 ZNF580 ATF2 KLF9 POLR2A ZNF10 BRCA1 PHF5A ACO2 POLR3H MEI1 TOB2 CSDC2 L3MBTL2 PHETA2 SMDT1 lnc-TOB2-1
GH22J041397 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.4 -50.3 -50329 0.8 KLF9 CEBPA YY1 FOXA1 THAP11 FOXA2 KDM6A RXRA SMAD4 ZNF511 piR-35595 piR-45135 piR-56016 piR-60541 CSDC2 TEF ACO2 PHF5A LOC100996598
GH22J041497 Enhancer 0.9 Ensembl ENCODE dbSUPER 12.1 +51.3 51261 5 ZNF654 CTCF RAD21 SMC3 YY1 HNF4A ZNF579 ZNF121 piR-50657-002 piR-61945-334 PHF5A ACO2 CSDC2 ENSG00000227370 L3MBTL2 POLR3H
GH22J041393 Enhancer 0.8 Ensembl ENCODE dbSUPER 11.4 -53.9 -53885 2.3 RXRA HNF4A SP1 MAX CSDC2 TEF POLR3H ACO2 PHF5A SMDT1 HSALNG0135633 piR-45135 LOC100996598
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACO2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACO2

Top Transcription factor binding sites by QIAGEN in the ACO2 gene promoter:
  • AhR
  • AML1a
  • C/EBPbeta
  • GR
  • GR-alpha
  • POU2F1
  • PPAR-gamma1
  • PPAR-gamma2
  • RFX1
  • STAT5A

Genomic Locations for ACO2 Gene

Latest Assembly
81,444 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
59,858 bases
Plus strand

(GRCh37/hg19 by Ensembl)
59,865 bases
Plus strand

Genomic View for ACO2 Gene

Genes around ACO2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACO2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACO2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACO2 Gene

Proteins for ACO2 Gene

  • Protein details for ACO2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Aconitate hydratase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • O75809
    • Q5JZ41
    • Q6FHX0
    • Q8TAQ6

    Protein attributes for ACO2 Gene

    780 amino acids
    Molecular mass:
    85425 Da
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Monomer.

neXtProt entry for ACO2 Gene

Selected DME Specific Peptides for ACO2 Gene


Post-translational modifications for ACO2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ACO2 Gene

Gene Families for ACO2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ACO2 Gene

GenScript: Design optimal peptide antigens:
  • Citrate hydro-lyase (ACON_HUMAN)
  • cDNA FLJ60429, highly similar to Aconitate hydratase, mitochondrial (EC (B4DEC3_HUMAN)
  • cDNA FLJ50886, highly similar to Aconitate hydratase, mitochondrial(EC (B4DW08_HUMAN)
  • Aconitase (Q71UF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the aconitase/IPM isomerase family.
  • Belongs to the aconitase/IPM isomerase family.
genes like me logo Genes that share domains with ACO2: view

Function for ACO2 Gene

Molecular function for ACO2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the isomerization of citrate to isocitrate via cis-aconitate.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=citrate = D-threo-isocitrate; Xref=Rhea:RHEA:10336, ChEBI:CHEBI:15562, ChEBI:CHEBI:16947; EC=; Evidence={ECO:0000250|UniProtKB:P16276};.
GENATLAS Biochemistry:
aconitase 2,iron sulfur protein,catalyzing the mitochondrial,second step of citric acid cycle,ubiquitously expressed,including multiple isoforms

Enzyme Numbers (IUBMB) for ACO2 Gene

Phenotypes From GWAS Catalog for ACO2 Gene

Gene Ontology (GO) - Molecular Function for ACO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003994 aconitate hydratase activity IEA,IBA 21873635
GO:0005506 iron ion binding IDA 9630632
GO:0016829 lyase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0047780 citrate dehydratase activity IEA --
genes like me logo Genes that share ontologies with ACO2: view
genes like me logo Genes that share phenotypes with ACO2: view

Human Phenotype Ontology for ACO2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for ACO2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACO2

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ACO2 Gene

Localization for ACO2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACO2 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACO2 gene
Compartment Confidence
mitochondrion 5
cytosol 4
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ACO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IBA 21873635
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IBA 21873635
genes like me logo Genes that share ontologies with ACO2: view

Pathways & Interactions for ACO2 Gene

genes like me logo Genes that share pathways with ACO2: view

UniProtKB/Swiss-Prot Q99798-ACON_HUMAN

  • Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; isocitrate from oxaloacetate: step 2/2.

SIGNOR curated interactions for ACO2 Gene

Other effect:

Gene Ontology (GO) - Biological Process for ACO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0006091 generation of precursor metabolites and energy TAS 9630632
GO:0006099 tricarboxylic acid cycle IEA,TAS --
GO:0006101 citrate metabolic process IEA,IDA 9630632
GO:0006102 isocitrate metabolic process IEA --
genes like me logo Genes that share ontologies with ACO2: view

Drugs & Compounds for ACO2 Gene

(9) Drugs for ACO2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Citric acid Approved, Vet_approved Nutra 1606
Isocitric acid Experimental Pharma Target 0
Tricarballylic acid Experimental Pharma Target 0
4-Hydroxy-Aconitate Ion Experimental Pharma Target 0

(5) Additional Compounds for ACO2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (Z)-1,2,4-But-1-enetricarboxylic acid
  • But-1-ene-1,2,4-tricarboxylate
  • cis-Homoaconitate
  • Homo-cis-aconitate
  • (Z)-1,2,4-But-1-enetricarboxylate
cis-Aconitic acid
  • (Z)-1-Propene-1,2,3-tricarboxylic acid
  • cis-1-Propene-1,2,3-tricarboxylic acid
  • (Z)-1-Propene-1,2,3-tricarboxylate
  • cis-1-Propene-1,2,3-tricarboxylate
  • cis-Aconitate
Homocitric acid
  • (R)-2-Hydroxy-1,2,4-butanetricarboxylic acid
  • (R)-2-Hydroxybutane-1,2,4-tricarboxylic acid
  • (R)-Homocitric acid
  • 3-Hydroxy-3-carboxyadipic acid
  • Homocitrate
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
  • Sulphide(2-)
genes like me logo Genes that share compounds with ACO2: view

Transcripts for ACO2 Gene

mRNA/cDNA for ACO2 Gene

14 NCBI additional mRNA sequence :
32 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACO2

Alternative Splicing Database (ASD) splice patterns (SP) for ACO2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11
SP1: - - -
SP2: -
SP3: - -
SP5: - - - - - - - - - - - -
SP6: -

Relevant External Links for ACO2 Gene

GeneLoc Exon Structure for

Expression for ACO2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACO2 Gene

mRNA differential expression in normal tissues according to GTEx for ACO2 Gene

This gene is overexpressed in Heart - Left Ventricle (x6.4) and Muscle - Skeletal (x5.3).

Protein differential expression in normal tissues from HIPED for ACO2 Gene

This gene is overexpressed in Heart (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACO2 Gene

Protein tissue co-expression partners for ACO2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACO2

SOURCE GeneReport for Unigene cluster for ACO2 Gene:


Evidence on tissue expression from TISSUES for ACO2 Gene

  • Heart(5)
  • Nervous system(5)
  • Muscle(4.7)
  • Liver(4.7)
  • Skin(4.3)
  • Lung(3.6)
  • Kidney(3.2)
  • Eye(3)
  • Blood(3)
  • Intestine(2.9)
  • Pancreas(2.9)
  • Adrenal gland(2.8)
  • Stomach(2.7)
  • Thyroid gland(2.7)
  • Gall bladder(2.1)
  • Spleen(2.1)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACO2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • mouth
  • tongue
  • arm
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ACO2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ACO2 Gene

Orthologs for ACO2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACO2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ACO2 30
  • 96 (a)
(Monodelphis domestica)
Mammalia ACO2 30
  • 94 (a)
(Canis familiaris)
Mammalia ACO2 29 30
  • 91.45 (n)
(Bos Taurus)
Mammalia ACO2 29 30
  • 91.37 (n)
(Ornithorhynchus anatinus)
Mammalia ACO2 30
  • 91 (a)
(Mus musculus)
Mammalia Aco2 29 16 30
  • 89.87 (n)
(Rattus norvegicus)
Mammalia Aco2 29
  • 89.74 (n)
(Gallus gallus)
Aves ACO2 29 30
  • 80.98 (n)
(Anolis carolinensis)
Reptilia -- 30
  • 90 (a)
-- 30
  • 83 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia aco2 29
  • 76.64 (n)
Str.823 29
(Danio rerio)
Actinopterygii aco2 29 30
  • 74.79 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007852 29
  • 70.42 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Acon 29 30
  • 69.92 (n)
CG4706 30 31
  • 68 (a)
(Caenorhabditis elegans)
Secernentea aco-2 29 30 31
  • 66.98 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADL032W 29
  • 64.57 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACO1 29 30 32
  • 62.19 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C17314g 29
  • 60.52 (n)
(Hordeum vulgare)
Liliopsida Hv.13082 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3336 30
  • 71 (a)
Bread mold
(Neurospora crassa)
Ascomycetes NCU02366 29
  • 66.01 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC24C9.06c 29
  • 61.35 (n)
Species where no ortholog for ACO2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ACO2 Gene

Gene Tree for ACO2 (if available)
Gene Tree for ACO2 (if available)
Evolutionary constrained regions (ECRs) for ACO2: view image
Alliance of Genome Resources:
Additional Orthologs for ACO2

Paralogs for ACO2 Gene

Paralogs for ACO2 Gene

(1) SIMAP similar genes for ACO2 Gene using alignment to 3 proteins:

  • A2A274_HUMAN
  • Q71UF1_HUMAN Pseudogenes for ACO2 Gene

genes like me logo Genes that share paralogs with ACO2: view

Variants for ACO2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACO2 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
1001600 Uncertain Significance: not provided 41,515,810(+) C/T
NM_001098.3(ACO2):c.728C>T (p.Ser243Leu)
1007103 Uncertain Significance: not provided 41,507,815(+) G/A
NM_001098.3(ACO2):c.198G>A (p.Ser66=)
1009665 Uncertain Significance: not provided 41,524,869(+) G/A
NM_001098.3(ACO2):c.1506G>A (p.Ala502=)
1010511 Uncertain Significance: not provided 41,515,385(+) G/A
NM_001098.3(ACO2):c.534G>A (p.Leu178=)
1012046 Uncertain Significance: not provided 41,526,338(+) TCTC/T
NM_001098.3(ACO2):c.1840_1842del (p.Ser614del)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ACO2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ACO2 Gene

Variant ID Type Subtype PubMed ID
esv3647798 CNV loss 21293372
esv3647799 CNV gain 21293372
nsv516925 CNV loss 19592680
nsv524585 CNV loss 19592680
nsv834208 CNV loss 17160897

Variation tolerance for ACO2 Gene

Residual Variation Intolerance Score: 8.61% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.53; 29.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACO2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACO2 Gene

Disorders for ACO2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for ACO2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
infantile cerebellar-retinal degeneration
  • icrd
optic atrophy 9
  • opa9
autosomal recessive isolated optic atrophy
  • autosomal recessive non-syndromic optic atrophy
retinal degeneration
  • degeneration of retina
- elite association - COSMIC cancer census association via MalaCards
Search ACO2 in MalaCards View complete list of genes associated with diseases


  • 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, ECO:0000269 PubMed:25351951}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Optic atrophy 9 (OPA9) [MIM:616289]: 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. {ECO:0000269 PubMed:25351951}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ACO2

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ACO2: view

No data available for Genatlas for ACO2 Gene

Publications for ACO2 Gene

  1. Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. (PMID: 25351951) Metodiev MD … Besmond C (Journal of medical genetics 2014) 3 4 72
  2. Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. (PMID: 22405087) Spiegel R … Elpeleg O (American journal of human genetics 2012) 3 4 72
  3. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4
  4. Characterization of the human mitochondrial aconitase gene (ACO2). (PMID: 9630632) Mirel DB … Wilhelmsen KC (Gene 1998) 3 4 22
  5. Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome. (PMID: 30689204) Sharkia R … Spiegel R (Journal of inherited metabolic disease 2019) 3 72

Products for ACO2 Gene

Sources for ACO2 Gene