Description
Product Characteristics: Recombinant Optic Atrophy 1, Autosomal Dominant (OPA1), Prokaryotic expression, Gln285-Glu561, N-terminal His Tag
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Target Information: This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]