GENETIC ENCYCLOPEDIA
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gene: OPA3

id80207
symbolOPA3
organismHomo sapiens
full nameouter mitochondrial membrane lipid metabolism regulator OPA3
summaryThe 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]
variant-disease

NM_001017989.3(OPA3):c.143-24456G>C AND 3-Methylglutaconic aciduria type 3

NM_001017989.3(OPA3):c.143-24357G>A AND not provided

NM_001017989.3(OPA3):c.143-18275G>A AND Optic Atrophy, Dominant

NM_001017989.3(OPA3):c.143-17850C>T AND Optic Atrophy, Dominant

NM_001017989.3(OPA3):c.143-22259A>G AND Optic Atrophy, Dominant

... 369 more


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