Anti-OPA3 Antibody Picoband® Fluoro647 Conjugated

Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene. The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene.

Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation (PubMed:17093495, PubMed:19289083, PubMed:23085020) . Required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint (PubMed:17093495) . The SKA1 complex is a component of the kinetochore-microtubule interface and ly associates with microtubules as oligomeric assemblies (PubMed:19289083) . The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner (PubMed:17093495, PubMed:19289083) . In the complex, it is required for SKA1 localization (PubMed:19289083) . Affinity for microtubules is synergistically enhanced in the presence of the ndc-80 complex and may allow the ndc-80 complex to track depolymerizing microtubules (PubMed:23085020) .

1. Anikster, Y., Kleta, R., Shaag, A., Gahl, W. A., Elpeleg, O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome) : identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am. J. Hum. Genet. 69: 1218-1224, 2001. 2. Arif, B., Kumar, K. R., Seibler, P., Vulinovic, F., Fatima, A., Winkler, S., Nurnberg, G., Thiele, H., Nurnberg, P., Jamil, A. Z., Bruggemann, A., Abbas, G., Klein, C., Lohmann, K. A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping. JAMA Neurol. 70: 783-787, 2013. 3. Carmi, N., Lev, D., Leshinsky-Silver, E., Anikster, Y., Blumkin, L., Kivity, S., Lerman-Sagie, T., Zerem, A. Atypical presentation of Costeff syndrome--severe psychomotor involvement and electrical status epilepticus during slow wave sleep. Europ. J. Paediat. Neurol. 19: 733-736, 2015.