OPA1 : OPA1 mitochondrial dynamin like GTPase

Description

The OPA1 (OPA1 mitochondrial dynamin like GTPase) is a protein-coding gene located on chromosome 3.

The OPA1 gene provides instructions for making a protein that is found in cells and tissues throughout the body. The OPA1 protein is active in the inner membrane of cell structures called mitochondria, which are the energy-producing centers in cells. Mitochondria are dynamic structures that change shape through processes called fission (splitting into smaller pieces) and fusion (combining pieces). Changes in shape are necessary for mitochondrial function and the production of new mitochondria. The OPA1 protein helps to regulate the shape of mitochondria by playing a key role in the fusion process. The OPA1 protein is also involved in a process that takes place in mitochondria called oxidative phosphorylation, from which cells derive much of their energy. Additionally, the OPA1 protein plays a role in the maintenance of the DNA within mitochondria, called mitochondrial DNA (mtDNA), and in controlled cell death (apoptosis).

OPA1 is a dynamin-related GTPase essential for maintaining normal mitochondrial morphology. It regulates the balance between mitochondrial fusion and fission. Co-expression of isoform 1 with shorter alternative products enhances mitochondrial fusion. OPA1 binds to lipid membranes rich in negatively charged phospholipids, promoting membrane tubulation. While its intrinsic GTPase activity is low, it significantly increases upon interacting with lipid membranes. It also plays a role in remodeling mitochondrial cristae and releasing cytochrome c during apoptosis. Proteolytic processing in response to apoptotic signals can lead to the disassembly of OPA1 oligomers and the release of cytochrome C (CYCS) into the mitochondrial intermembrane space. Furthermore, OPA1 contributes to the maintenance of the mitochondrial genome.

OPA1 is also known as BERHS, MGM1, MTDPS14, NPG, NTG, largeG.

Associated Diseases

• Autosomal dominant optic atrophy plus syndrome
• Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)
• Autosomal dominant optic atrophy, classic form
• Optic atrophy 1
• Behr syndrome
• Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
• Optic atrophy type 1
• Progressive external ophthalmoplegia