Disease relevance of OPTN

• Mutations in the OPTN gene encoding for optineurin have been associated with primary open-angle glaucoma [1].

High impact information on OPTN

• Remarkably, during erythroblast differentiation FIP-2 was found to translocate from the Golgi to the marginal band [2].
• In contrast, disruption of both Golgi structure and function (by brefeldin A) led to a loss of FIP-2 from Golgi membranes [2].
• Differential localization of chicken FIP2 homologue, Ag-9C5, in secretory epithelial cells [3].
• Perturbation of the Golgi structure without loss of Golgi function (by treatment with nocodazole) resulted in a retention of FIP-2 at the dispersed Golgi fragments [2].
• Moreover, our results raise the possibility that the marginal band of chicken erythrocytes, in addition to its role in morphogenesis, has a function in signal transduction and that FIP-2 is in some way involved in its formation [2].

Biological context of OPTN

• We found that chicken FIP-2 was expressed in a variety of tissues and cell types, but unlike its human counterpart, alternative splicing does not appear to take place [2].
• Using an antiserum directed against marginal band associated proteins of chicken erythrocytes we isolated clones encoding the chicken homolog of 14.7K-interacting protein 2 (FIP-2), a protein potentially involved in tumor necrosis factor-alpha/nuclear factor-kappaB signaling, from a chicken erythroblast cDNA library [2].

References