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OPA1 OPA1 mitochondrial dynamin like GTPase

Gene ID: 4976, updated on 13-Feb-2019
Also known as: NPG; NTG; MGM1; BERHS; largeG; MTDPS14

Summary

The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This protein also sequesters cytochrome c. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. [provided by RefSeq, Aug 2017]

Genomic context

Location:
3q29
Sequence:
Chromosome: 3; NC_000003.12 (193593144..193697811)
Total number of exons:
32

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