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Abnova
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Sequence of this protein is as follows: RHQAQQRHKE EEQRAAWNAL RDEVGHLALA LEALQTQVQA APPQGALEEL RTELQEVRAQ LCNPGRSASH AVPASKK
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.
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