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Article

A missense mutation in the murine Opa3 gene models human Costeff syndrome.

Brain : a journal of neurology - 1 Feb 2008

Davies Vanessa J, Powell Kate A, White Kathryn E, Yip Wanfen, Hogan Vanessa, Hollins Andrew J, Davies Jennifer R, Piechota Malgorzata, Brownstein David G, Moat Stuart J, Nichols Philip P, Wride Michael A, Boulton Michael E, Votruba Marcela

Abstract excerpt

Opa3 mRNA is expressed in all tissues examined to date, but currently the function of the OPA3 protein is unknown. Intriguingly, various mutations in the OPA3 gene lead to two similar diseases in humans: autosomal dominant inherited optic atrophy and cataract (ADOAC) and a metabolic condition; type 3-methylglutaconic aciduria (MGA). Early onset bilateral optic atrophy is a common characteristic of both disorders;...

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18222992
DOI: 10.1093/brain/awm333

Genes

OPA3
MGA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A missense mutation in the murine Opa3 gene models human Costeff syndrome.PMID 18222992Read ↗

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