NP_001017989.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
19,996 Da
NCBI Official Full Name
optic atrophy 3 protein isoform a
NCBI Official Synonym Full Names
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
NCBI Official Synonym Symbols
NCBI Protein Information
optic atrophy 3 protein; Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus')
UniProt Protein Name
Optic atrophy 3 protein
UniProt Entry Name
OPA3_HUMAN
NCBI Summary for OPA3
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. [provided by RefSeq, Oct 2009]
UniProt Comments for OPA3
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 of 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; neuromuscular process; response to stimulus; growth
Disease: Optic Atrophy 3, Autosomal Dominant; 3-methylglutaconic Aciduria, Type Iii
Research Articles on OPA3
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Diseases associated with OPA3 elisa kit
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