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OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3

Gene ID: 80207, updated on 5-Jan-2022
Gene type: protein coding
Also known as: MGA3

Summary

The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Associated conditions

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DescriptionTests
3-Methylglutaconic aciduria type 3
MedGen: C0574084OMIM: 258501GeneReviews: Costeff Syndrome
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Genome-wide association study of comorbid depressive syndrome and alcohol dependence.
GeneReviews: Not available
Optic atrophy 3
MedGen: C1833809OMIM: 165300GeneReviews: Not available
See labs

Genomic context

Location:
19q13.32
Sequence:
Chromosome: 19; NC_000019.10 (45527427..45584802, complement)
Total number of exons:
4

Links

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