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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Adult-onset primary open-angle glaucoma caused by mutations in optineurin.

Primary open-angle glaucoma (POAG) affects 33 million individuals worldwide and is a leading cause of blindness. In a study of 54 families with autosomal dominantly inherited adult-onset POAG, we identified the causative gene on chromosome 10p14 and designated it OPTN (for " optineurin"). Sequence alterations in OPTN were found in 16.7% of families with hereditary POAG, including individuals with normal intraocular pressure. The OPTN gene codes for a conserved 66-kilodalton protein of unknown function that has been implicated in the tumor necrosis factor-alpha signaling pathway and that interacts with diverse proteins including Huntingtin, Ras-associated protein RAB8, and transcription factor IIIA. Optineurin is expressed in trabecular meshwork, nonpigmented ciliary epithelium, retina, and brain, and we speculate that it plays a neuroprotective role.[1]

References

  1. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Rezaie, T., Child, A., Hitchings, R., Brice, G., Miller, L., Coca-Prados, M., Héon, E., Krupin, T., Ritch, R., Kreutzer, D., Crick, R.P., Sarfarazi, M. Science (2002) [Pubmed]
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