OPA3 Antibody

1. Mutations of the OPA3 gene can cause either autosomal dominant or autosomal recessive optic atrophy. PMID: 25205859
2. 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. PMID: 24136862
3. A novel missense mutation identifies OPA3 as the cause of a complex neurological disorder with marked lower limb dystonia. PMID: 23700088
4. 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. PMID: 21036400
5. 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. PMID: 20372962
6. findings thus place the cellular metabolic defect of 3-methylglutaconic aciduria type III in the mitochondrion rather than the peroxisome and implicate loss of OPA3A rather than gain of OPA3B in disease etiology. PMID: 20350831
7. two missense mutations in OPA3 in two families affected by autosomal dominant optic atrophy and cataract (ADOAC) PMID: 15342707
8. patient with Costeff syndrome presenting the characteristics of this syndrome and the single-nucleotide polymorphic gene that causes this disease. PMID: 16838891
9. OPA1 mutations, mtDNA mutations, and OPA3 mutations in 980 patients Leber's hereditary optic neuropathy and autosomal dominant optic atrophy PMID: 19319978
10. The mouse ortholog of OPA3 purifies with mitochondrial inner membranes. PMID: 12865426
11. The mouse ortholog of OPA3 purifies with mitochondria PMID: 18614015
12. 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 PMID: 11668429

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HGNC: 8142

OMIM: 165300

KEGG: hsa:80207

UniGene: Hs.466945