Optic Atrophy 3 (Autosomal Recessive, with Chorea and Spastic Paraplegia) 蛋白 (OPA3)

The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane.

列出全部蛋白 基因 基因ID UniProt
小鼠 OPA3 OPA3 403187 Q505D7
 OPA3 OPA3 80207 Q9H6K4
大鼠 OPA3 OPA3 308409  
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更多Optic Atrophy 3 (Autosomal Recessive, with Chorea and Spastic Paraplegia) (OPA3)互动伙伴

Zebrafish Optic Atrophy 3 (Autosomal Recessive, with Chorea and Spastic Paraplegia) (OPA3) interaction partners

  1. 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

Mouse (Murine) Optic Atrophy 3 (Autosomal Recessive, with Chorea and Spastic Paraplegia) (OPA3) interaction partners

  1. Opa3(L122P) mice displayed craniofacial abnormalities, including undergrowth of the lower mandible, accompanied in some individuals by cranial asymmetry and incisor malocclusion

  2. Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome.

  3. Mutant Opa3 protein retains its mitochondrial localization and induces disrupted mitochondrial morphology. Opa3 accumulates in the lens. The results may reflect a slow turnover of Opa3 protein in vivo and may be important in normal lens physiology.

  4. to investigate the OPA3 function we have generated a novel ENU-induced mutant mouse carrying a missense mutation in the OPA3 gene. In the heterozygous state, the mice appear uncompromised. In the homozygous state mice display some of the features of MGA.

Cow (Bovine) Optic Atrophy 3 (Autosomal Recessive, with Chorea and Spastic Paraplegia) (OPA3) interaction partners

  1. The present study is the first report of the OPA3 mutation in dilated cardiomyopathy affected cows outside Switzerland.

  2. the nonsense mutation c.343C>T in the bovine OPA3 gene causes the late-onset dilated cardiomyopathy in Red Holstein cattle.

Human Optic Atrophy 3 (Autosomal Recessive, with Chorea and Spastic Paraplegia) (OPA3) interaction partners

  1. Mutations of the OPA3 gene can cause either autosomal dominant or autosomal recessive optic atrophy.

  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.

  3. A novel missense mutation identifies OPA3 as the cause of a complex neurological disorder with marked lower limb dystonia.

  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.

  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.

  6. two missense mutations in OPA3 in two families affected by autosomal dominant optic atrophy and cataract (ADOAC)

  7. OPA1 mutations, mtDNA mutations, and OPA3 mutations in 980 patients Leber's hereditary optic neuropathy and autosomal dominant optic atrophy

  8. The mouse ortholog of OPA3 purifies with mitochondrial inner membranes.

  9. The mouse ortholog of OPA3 purifies with mitochondria

  10. 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

蛋白简介OPA3

蛋白简介

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.

Gene names and symbols associated with OPA3

  • optic atrophy 3 (opa3)
  • optic atrophy 3 (Opa3)
  • OPA3, outer mitochondrial membrane lipid metabolism regulator (OPA3)
  • OPA3, outer mitochondrial membrane lipid metabolism regulator (Opa3)
  • D630048P19Rik 蛋白
  • Gm472 蛋白
  • Gm1425 蛋白
  • MGA3 蛋白

Protein level used designations for OPA3

optic atrophy 3 protein homolog , mitochondrial optic atrophy 3 protein , Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus') , optic atrophy 3 protein , optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)

GENE ID SPECIES
497278 Danio rerio
403187 Mus musculus
523579 Bos taurus
80207 Homo sapiens
308409 Rattus norvegicus
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