The OPA1 (optic atrophy type 1) gene has been mapped to human chromosome 3q28-q29. This nuclear gene encodes a mitochondria-localized, dynamin-related protein. It contains a highly basic amino-terminal domain that assists in mitochondrial localization. The gene spans a length of 69kb and contains 29 exons. It is broadly expressed with highest expression in the retina.
Synonyms: Anti-FLJ12460; Anti-KIAA0567; Anti-MGM1; Anti-NPG; Anti-NTG; Anti-Optic atrophy 1 (autosomal dominant)
Storage: -20C
Application: All Prestige Antibodies Powered by Atlas Antibodies are developed and validated by the Human Protein Atlas (HPA) project (www.proteinatlas.org)and as a result, are supported by the most extensive characterization in the industry. The Human Protein Atlas project can be subdivided into three efforts: Human Tissue Atlas, Cancer Atlas, and Human Cell Atlas. The antibodies that have been generated in support of the Tissue and Cancer Atlas projects have been tested by immunohistochemistry against hundreds of normal and disease tissues and through the recent efforts of the Human Cell Atlas project, many have been characterized by immunofluorescence to map the human proteome not only at the tissue level but now at the subcellular level. These images and the collection of this vast data set can be viewed on the Human Protein Atlas (HPA) site by clicking on the Image Gallery link. To view these protocols and other useful information about Prestige Antibodies and the HPA, visit sigma.com/prestige.
Biochem Physiol Actions: The OPA1 (optic atrophy type 1) gene encodes a large GTPase that may function in mitochondrial biogenesis and may stabilize the integrity of mitochondrial membrane. Mutations in this gene have been associated with ADOA (autosomal dominant optic atrophy), highly prevalent hereditary optic neuropathy, which is characterized by progressive loss of visual acuity, centrocoecal scotoma and bilateral temporal atrophy of the optic nerve. The disease is usually seen to surface within the first two decades of life.
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