ACO2 aconitase 2

Gene ID: 50, updated on 7-Sep-2023
Gene type: protein coding
Also known as: ICRD; OCA8; OPA9; ACONM; HEL-S-284

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. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Infantile cerebellar-retinal degeneration MedGen: C3281192OMIM: 614559GeneReviews: Not available	See labs
Optic atrophy 9 MedGen: C4225384OMIM: 616289GeneReviews: Not available	See labs

Genomic context

Location:: 22q13.2

Sequence:: Chromosome: 22; NC_000022.11 (41469117..41528974)

Total number of exons:: 18

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	GeneView Report Go to Variation Viewer for ACO2 variants
1000 Genomes	See 1000 Genomes Browser (GRCh37.p13)

Links

ACO2 @ LOVD
BioSystems
BioSystems
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SNP: GeneView
SNPs linked from GeneView

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