OPA1 Antibodies

Target Information

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.

Synonyms

1200011N24Rik; AI225888; AI847218; BERHS; Dynamin-like 120 kDa protein, form S1; Dynamin-like 120 kDa protein, mitochondrial; dynamin-like guanosine triphosphatase; EMBL:AAI11072.1}; hypothetical protein; KIAA0567; Large GTP-binding protein; largeG; lilr3; MGM1; mitochondrial dynamin-like GTPase; mitochondrial OPA1; mKIAA0567; MTDPS14; NPG; NTG; OPA1; opa1 {ECO:0000312; OPA1 mitochondrial dynamin like GTPase; OPA1, mitochondrial dynamin like GTPase; optic atrophy 1; optic atrophy 1 (autosomal dominant); optic atrophy 1 homolog; optic atrophy 1-like protein; optic atrophy protein 1; Optic atrophy protein 1 homolog; RCJMB04_1m16; RN protein