OPA3

Chr 19

outer mitochondrial membrane lipid metabolism regulator OPA3

Also known as: MGA3

NCBI Gene: 80207 ENSG00000125741 UniProt: Q9H6K4

This protein localizes to the mitochondrial inner membrane and is involved in mitochondrial processes. Mutations cause optic atrophy with cataract and 3-methylglutaconic aciduria type III, with both autosomal dominant and autosomal recessive inheritance patterns described. The gene shows intermediate constraint against loss-of-function variants (pLI 0.57, LOEUF 1.13).

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProt3-methylglutaconic aciduria 3

UniProtOptic atrophy 3

Clinical highlights

Gene-disease validity (ClinGen)

optic atrophy 3 · ADModerateconsider for supplementary testing

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.13

LOEUF

LOF

Mechanism· G2P

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GeneReview available — OPA3