Aliases for OPA1 Gene
External Ids for OPA1 Gene
Previous GeneCards Identifiers for OPA1 Gene
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]
GeneCards Summary for OPA1 Gene
OPA1 (OPA1, Mitochondrial Dynamin Like GTPase) is a Protein Coding gene. Diseases associated with OPA1 include Behr Syndrome and Optic Atrophy 1. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Glucose / Energy Metabolism. GO annotations related to this gene include GTP binding and magnesium ion binding.
UniProtKB/Swiss-Prot for OPA1 Gene
Dynamin-related GTPase required for mitochondrial fusion and regulation of apoptosis. May form a diffusion barrier for proteins stored in mitochondrial cristae. Proteolytic processing in response to intrinsic apoptotic signals may lead to disassembly of OPA1 oligomers and release of the caspase activator cytochrome C (CYCS) into the mitochondrial intermembrane space. May also play a role in mitochondrial genome maintenance.
Dynamin-like 120 kDa protein, form S1: Inactive form produced by cleavage at S1 position by OMA1 following stress conditions that induce loss of mitochondrial membrane potential, leading to negative regulation of mitochondrial fusion.