This Antibody was verified by Relative expression to ensure that the antibody binds to the antigen stated.
FIGURE: 1 / 7
Immunogen sequence: KEGCTVSPET ISLNVKGPGL QRMVLVDLPG VINTVTSGMA PDTKETIFSI SKAYMQNPNA IILCIQDGSV DAERSIVTDL VSQMDPHG
Highest antigen sequence identity to the following orthologs: Mouse - 100%, Rat - 100%.
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, form S1; Dynamin-like 120 kDa protein, mitochondrial; dynamin-like guanosine triphosphatase; mitochondrial dynamin-like GTPase; optic atrophy 1 (autosomal dominant); Optic atrophy protein 1
Gene Aliases: BERHS; KIAA0567; largeG; MGM1; MTDPS14; NPG; NTG; OPA1
UniProt ID: (Human) E5KLK2
Entrez Gene ID: (Human) 4976
Molecular Function: membrane traffic protein