OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3
Gene ID: 80207, updated on 19-Sep-2024Gene type: protein coding
Also known as: MGA3
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- Go to complete Gene record for OPA3
- Go to Variation Viewer for OPA3 variants
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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| Description | Tests |
|---|---|
| 3-Methylglutaconic aciduria type 3 | See labs |
| Genome-wide association study of comorbid depressive syndrome and alcohol dependence. GeneReviews: Not available | |
| Optic atrophy 3 | See labs |
Genomic context
- Location:
- 19q13.32
- Sequence:
- Chromosome: 19; NC_000019.10 (45527427..45584802, complement)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for OPA3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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