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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. Eight transcript variants encoding different isoforms, resulting from alternative splicing of exon 4 and two novel exons named 4b and 5b, have been reported for this gene. |
Images
OPA1 staining of prostatic smooth muscle and glandular epithelium. 40X Magnification.
Detection of Opa-1 protein in post-nuclear extracts of mouse embryonic fibroblasts.