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Antibody detects endogenous levels of total OPA1.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: dynamin-like 120 kDa protein, mitochondrial; Dynamin-like GTPase OPA1, mitochondrial; dynamin-like guanosine triphosphatase; Large GTP-binding protein; LargeG; mitochondrial dynamin-like GTPase; mitochondrial OPA1; opa1 {ECO:0000312|EMBL:AAI11072.1}; optic atrophy 1 (autosomal dominant); optic atrophy 1 homolog; optic atrophy 1-like protein; Optic atrophy protein 1; Optic atrophy protein 1 homolog; RN protein
基因别名: 1200011N24Rik; AI225888; AI847218; BERHS; KIAA0567; largeG; lilr3; MGM1; mKIAA0567; MTDPS14; NPG; NTG; OPA1
UniProt ID: (Human) O60313, (Rat) Q2TA68, (Mouse) P58281
Entrez Gene ID: (Human) 4976, (Rat) 171116, (Mouse) 74143