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Protein Page:
OPA3 (human)

Overview
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. Note: This description may include information from UniProtKB.
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
Reference #:  Q9H6K4 (UniProtKB)
Alt. Names/Synonyms: FLJ22187; FLJ25932; MGA3; MGC75494; OPA3; optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia); Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus'); Optic atrophy 3 protein
Gene Symbols: OPA3
Molecular weight: 19,996 Da
Basal Isoelectric point: 9.07  Predict pI for various phosphorylation states
Select Structure to View Below

OPA3

Protein Structure Not Found.


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