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. 2014 Mar 27;5:3517. doi: 10.1038/ncomms4517

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(a) High expression of SLC7A14 was observed in the retina, brain and spinal cord. (b) SLC7A14 is expressed as early as stage E18.5 and expression increases during postnatal development of the retina. (c) Immunohistochemical analysis of the retina showed that SLC7A14 (green) is expressed in the photoreceptor layer. Rhodopsin (red) is expressed in the outer segment of rod photoreceptors. DAPI (blue) indicates DNA in the cells’ nuclei. Scale bar, 50 μm. (d) In vitro assay elucidated the mutation effect on Slc7a14 subcellular localization. Wild-type Slc7a14 is colocalized with LysoTracker, whereas the p.G330R mutant does not and exhibits a remarkable change with a diffuse distribution of the signal in the cytoplasm, demonstrating that the mutation affects protein subcellular localization. Scale bar, 50 μm.