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ACO2 aconitase 2

Gene ID: 50, updated on 15-Apr-2019
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

DescriptionTests
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 (41468756..41528989)
Total number of exons:
19

Links

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