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The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Additionally we are shipping OPA3 Antibodies (22) and OPA3 Proteins (5) and many more products for this protein.
Mutations of the OPA3 gene can cause either autosomal dominant or autosomal recessive optic atrophy.
Report the results of a comprehensive study on OPA3 mutations, including the mutation spectrum and its prevalence in a large cohort of ADOA patients, the associated clinical phenotype and the functional characterisation of a newly identified OPA3 mutant.
A novel missense mutation identifies OPA3 as the cause of a complex neurological disorder with marked lower limb dystonia.
OPA1 mutations are the most common genetic defects identified in patients with suspected Autosomal-dominant optic atrophy (DOA), whereas OPA3 mutations are very rare in isolated optic atrophy cases.
OPA3, as an integral mitochondrial outer membane perotein, has a crucial role in mitochondrial fission, and provides a direct link between mitochondrial morphology and optic atrophy.
two missense mutations in OPA3 in two families affected by autosomal dominant optic atrophy and cataract (ADOAC)
OPA1 mutations, mtDNA mutations, and OPA3 mutations in 980 patients Leber's hereditary optic neuropathy and autosomal dominant optic atrophy
The mouse ortholog of OPA3 purifies with mitochondrial inner membranes.
The mouse ortholog of OPA3 purifies with mitochondria
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
mitochondrial OPA3 is required to limit HMG-CoA-derived MGC and protect the electron transport chain against inhibitory compounds in a zebrafish model of Costeff Syndrome
The present study is the first report of the OPA3 mutation in dilated cardiomyopathy affected cows outside Switzerland.
the nonsense mutation c.343C>T in the bovine OPA3 gene causes the late-onset dilated cardiomyopathy in Red Holstein cattle.
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.
Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus')
, optic atrophy 3 protein
, optic atrophy 3 protein homolog
, mitochondrial optic atrophy 3 protein