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Optic atrophy 3 protein

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May play some role in mitochondrial processes.

Below are the list of possible Optic atrophy 3 protein products. If you cannot find the target and/or product is not available in our catalog, please click here to contact us and request the product or submit your request for custom elisa kit production, custom recombinant protein production or custom antibody production. Custom ELISA Kits, Recombinant Proteins and Antibodies can be designed, manufactured and produced according to the researcher's specifications.
 

Optic atrophy 3 protein

 Optic atrophy 3 protein ELISA Kit
 Optic atrophy 3 protein Recombinant
 Optic atrophy 3 protein Antibody
OPA3: May play some role in mitochondrial processes. Defects in OPA3 are the cause of 3-methylglutaconic aciduria type 3 (MGA3); also known as optic atrophy plus syndrome or Costeff optic atrophy syndrome. MGA3 is an autosomal recessive neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction, and cognitive deficit. Urinary excretion o
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f 3- methylglutaconic acid and 3-methylglutaric acid is increased. MGA3 can be distinguished from MGA1 by the absence of increase of 3- hydroxyisovaleric acid levels. Defects in OPA3 are the cause of optic atrophy type 3 (OPA3); also known as autosomal dominant optic atrophy and cataract (ADOAC) or cataract, optic atrophy and neurologic disorder. Hereditary optic atrophy form a heterogeneous group of disorders. The autosomal dominant forms are characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disk pallor, color vision deficits and centrocecal scotoma of variable density. Belongs to the OPA3 family. 2 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 19q13.32

Cellular Component: mitochondrion

Biological Process: regulation of lipid metabolic process; visual perception

Disease: 3-methylglutaconic Aciduria, Type Iii; Optic Atrophy 3, Autosomal Dominant
 OPA3 ELISA Kit
 OPA3 Recombinant
 OPA3 Antibody
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Optic atrophy 3 protein homolog

 Optic atrophy 3 protein homolog ELISA Kit
 Optic atrophy 3 protein homolog Recombinant
 Optic atrophy 3 protein homolog Antibody
May play some role in mitochondrial processes.
 OPA3 ELISA Kit
 OPA3 Recombinant
 OPA3 Antibody
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