rs141772938

This is a variant in the ACO2 gene that changes a leucine to an valine.

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ClinVar annotation

Pathogenic★☆☆☆

15 submitters8 publications

ACO2-related disorder; Infantile cerebellar-retinal degeneration (ICRD); OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE; Optic atrophy; Optic atrophy 9 (OPA9); Retinal dystrophy; not specified

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About ACO2

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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