OPA1
Universal Cellular Machinery · Mitochondrial Biogenesis & Dynamics
How do mitochondria combine parts of their inner membranes?
OPA1 makes a protein active at the mitochondrial inner membrane that participates in fusion and structural maintenance. These shape changes support normal mitochondrial function, including in nerve cells important for vision.
- Common Gene Name
- OPA1 mitochondrial dynamin like GTPase
- NCBI Gene ID
- 4976
- Chromosome
- 3
Clinical Evidence Status
Established disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (4 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| Leigh syndrome | ClinGen gene-disease validity | Moderate | Autosomal recessive | View source 2021-06-14 |
| OPA1-related optic atrophy with or without extraocular features | ClinGen gene-disease validity | Definitive | Semidominant | View source 2022-11-17 |
| Optic atrophy type 1 | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2017-08 | |
| Progressive external ophthalmoplegia | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2017-08 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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