Ontology Term : Pfam:PF07047 Optic atrophy 3 protein (OPA3) EMBL-EBI

Description  This family consists of several optic atrophy 3 (OPA3) proteins. OPA3 deficiency causes type III 3-methylglutaconic aciduria (MGA) in humans. This disease manifests with early bilateral optic atrophy, spasticity, extrapyramidal dysfunction, ataxia, and cognitive deficits, but normal longevity [1].
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56 Data Sets

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1 Ontology

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354 Ontology Annotations

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