Immunogen sequence: ESIKRHKWND FAEDSLRVIQ HNALEDRSIS DKQQWDAAIY FMEEALQARL KDTENAIENM VGPDWKKRWL YWKNRTQEQC VHNETKNELE KMLKCNE
Highest antigen sequence identity to the following orthologs: Mouse - 95%, Rat - 95%.
OPA1 is a dynamin-related GTPase that is critical for the maintenance of mitochondrial morphology and mtDNA. The most commonly associated phenotype with OPA1 mutations is heterozygous optic atrophy, a heterozygous dominant trait that causes reduced visual clarity and sometimes blindness. The disease usually begins in childhood and increases in severity throughout the life of affected individuals. Usually, this phenotype is attributed to the degeneration of optic nerve fibers. Interestingly, the same type of nerve degeneration seems to be partially causative of certain schizophrenia characteristics. OPA1 dysfunction also seems to be implicated in this case; mitochondrial networks associated with critical nerves seem to link schizophrenia and OPA1. The dysfunction is associated with issues with apoptosis and normal cellular metabolic regulation, all regulated through OPA1.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: dynamin-like 120 kDa protein; Dynamin-like 120 kDa protein, form S1; Dynamin-like 120 kDa protein, mitochondrial; dynamin-like guanosine triphosphatase; largeG; MGM1; mitochondrial; mitochondrial dynamin-like 120 kDa protein; mitochondrial dynamin-like GTPase; NPG; NTG; optic atrophy 1 (autosomal dominant); Optic atrophy protein 1
Gene Aliases: BERHS; KIAA0567; largeG; MGM1; MTDPS14; NPG; NTG; OPA1
UniProt ID: (Human) O60313
Entrez Gene ID: (Human) 4976