DISEASES

Disease-gene associations mined from literature

Literature associating OPA1 and optic nerve disease

OPA1 [ENSP00000354681]

Dynamin-like 120 kDa protein, mitochondrial; Dynamin-related GTPase that is essential for normal mitochondrial morphology by regulating the equilibrium between mitochondrial fusion and mitochondrial fission (PubMed:16778770, PubMed:17709429, PubMed:20185555, PubMed:24616225, PubMed:28746876). Coexpression of isoform 1 with shorter alternative products is required for optimal activity in promoting mitochondrial fusion . Binds lipid membranes enriched in negatively charged phospholipids, such as cardiolipin, and promotes membrane tubulation . The intrinsic GTPase activity is low, and is strongly increased by interaction with lipid membranes . Plays a role in remodeling cristae and the release of cytochrome c during apoptosis (By similarity). 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 (By similarity). Plays a role in mitochondrial genome maintenance . ECO:0000269|PubMed:16778770, ECO:0000269|PubMed:17709429, ECO:0000269|PubMed:18158317, ECO:0000269|PubMed:20185555, ECO:0000269|PubMed:20974897, ECO:0000269|PubMed:24616225, Isoforms that contain the alternative exon 4b (present in isoform 4 and isoform 5) are required for mitochondrial genome maintenance, possibly by anchoring the mitochondrial nucleoids to the inner mitochondrial membrane.

Synonyms:  OPA1,  OPA1p,  hOPA1,  A0A2R8Y3X5,  A0A2R8Y4G4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM